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    "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Introduction</span><p id="par0005" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleDisplayedQuote" id="dsq0005"><p id="spar0005" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleItalic">&#34;The lineage of such men as you cannot have been lost&#46;&#34;</span></p><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleItalic">Menelaus&#44; The Odyssey</span></p><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleItalic">&#34;An exact determination of the laws of heredity will probably work more change in a man&#39;s outlook on the world and in his power over nature that any other advance in natural knowledge that can be clearly foreseen&#46;&#34;</span></p><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleItalic">William Bateson&#44; 1900</span></p></span></p><p id="par0010" class="elsevierStylePara elsevierViewall">Chronic kidney disease &#40;CKD&#41; is a worldwide public health problem&#46; Approximately 1&#37; of the population requires renal replacement therapy&#44; but it consumes up to 5&#37; of the health system budget&#46; The assessment of the prevalence of CKD and the development of specific programs in health systems to reduce its consequences are currently considered basic public health strategies&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;2</span></a> According to the latest records of the Spanish Society of Nephrology&#44; the incidence of CKD in Spain is 151&#46;9&#8239;pmp&#44; with a wide range from 41&#8239;pmp in those younger than 44 years to 474&#46;1&#8239;pmp in those older than 75 years&#44; depending on the age of the population studied&#46;<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a></p><p id="par0015" class="elsevierStylePara elsevierViewall">One of the main problems when dealing with CKD in public health programs is the high percentage of patients who are diagnosed in very advanced stages of the disease&#44; a circumstance that undermines the effectiveness of preventive programs&#46; At present&#44; the mechanisms responsible for kidney disease remain unknown&#44; and few therapies are directed at a specific target&#46; Approximately 25&#37; of patients with CKD have or present a family history and Mendelian causes represent about 10&#37; of the etiologies of CKD&#44; and are the main cause of nephropathy in children&#46;<a class="elsevierStyleCrossRefs" href="#bib0020"><span class="elsevierStyleSup">4&#8211;7</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">It is estimated that approximately 10&#37; of adults worldwide with a recent diagnosis of CKD have an &#34;unknown&#44;&#34; &#34;other&#44;&#34; or &#34;not affiliated&#34; cause of disease&#46; This lack of specific or&#44; at best&#44; ambiguous diagnosis prevents adequate clinical management&#44; which makes it impossible to use targeted therapeutic approaches&#46; In Spain&#44; the results are no more flattering&#44; with a high percentage of patients lacking precise diagnoses&#44; as reflected in the records of the Spanish Society of Nephrology for the following age groups the &#8220;unknown diagnosis&#8221; is&#58; 15&#8211;44 years&#44; 7&#46;2&#37;&#59; 45&#8211;64 years&#44; 25&#46;6&#37;&#59; 65&#8211;74 years&#44; 27&#46;9&#37;&#59; and &#62;75 years&#44; 39&#46;3&#37;&#46;<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">8</span></a></p><p id="par0025" class="elsevierStylePara elsevierViewall">There are few studies on the cost-effectiveness of genetic analysis for the early and reliable diagnosis of renal diseases and family diagnoses&#46;<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">9&#44;10</span></a> Many patients are diagnosed at advanced stages of CKD &#40;stages 4 and 5&#41;&#44; at which time renal biopsies do not usually provide valid information&#44; hence the interest in early diagnosis&#46; Complete exome sequencing &#40;part of the genome formed by the exons&#44; i&#46;e&#46;&#44; the coding parts of the genes that will be part of the ribonucleic acid-messenger RNA&#41; is emerging as the first-line diagnostic method in some disciplines&#46; However&#44; its utility had not been adequately examined in renal diseases until the recent appearance of two papers that analyzed it in both adult and pediatric populations&#46; The first of these studies&#44; carried out in the adult population at Columbia University in New York&#44; studied 3&#44;315 patients with CKD&#44; identifying genetic alterations in 307 of them &#40;9&#46;3&#37;&#41;&#44; in accordance with the diagnostic variants defined and classified as pathogenic or probably pathogenic according to the guidelines of the <span class="elsevierStyleItalic">American College of Medical Genetics and Genomics&#46;</span><a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">11</span></a> Sixty-seven percent of the diagnosed entities had autosomal dominant inheritance&#44; 14&#37; autosomal recessive and 18&#37; X-linked inheritance&#46; The main etiological diagnosis was related to renal cystic diseases&#44; followed by collagen mutations and glomerular diseases&#46; The percentage of patients in whom a genetic alteration was identified was very similar to that of oncology patients&#44; in whom genomic diagnosis is routinely employed&#46; One of the most important messages of this study is the importance of the clinical implications on the progression of nephropathy&#44; family information and counseling&#44; the utility in selecting a family member as a potential living donor&#44; and the systemic implications of an etiological diagnosis&#46; Thus&#44; the genomic diagnosis of these patients caused 53&#37; of the patients to be referred to and evaluated by other specialists for presenting or associating with other extrarenal clinical manifestations&#46; The genetic diagnosis meant that in 89&#37; of the cases the clinical management of the patients was modified&#44; either with the suspension or initiation of immunosuppressive treatments&#44; or through the option of including the patients in clinical trials&#44; and above all with the possibility of carrying out targeted therapies&#44; avoiding unnecessary invasive procedures&#46; In light of these studies&#44; it will probably be necessary to reconsider the classification of diseases based on a molecular classification&#46; Sequentially&#44; Mann et al&#46; have published their results of complete sequencing of 104 pediatric patients at the time of kidney transplantation at <span class="elsevierStyleItalic">Boston Children&#39;s Hospital</span> in 2007&#8211;2017&#46;<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">12</span></a> Exome studies in patients under 25 years of age with CKD have identified pathogenic mutations related to their kidney disease in 20&#37; of them&#46;<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">13</span></a> In this group of 104 patients&#44; pathogenic genomic alterations were identified in 34 patients &#40;32&#46;7&#37;&#41;&#44; which translated into important implications in their management and clinical approach&#46; The diagnosis of diseases such as primary hyperoxaluria type <span class="elsevierStyleSmallCaps">I</span>&#44; Fabry disease&#44; Dent disease or the presence of mutations in glomerular diseases entails very important changes in treatment&#44; prognosis&#44; and family information&#46; For all these reasons&#44; there are more and more voices in the scientific world that advocate a genetic approach in patients with renal disease of unknown origin&#46; Supported by its proven clinical utility in different scenarios and the progressive reduction in price&#44; the exome study is becoming an efficient and cost-effective diagnostic test&#46;</p><p id="par0030" class="elsevierStylePara elsevierViewall">Considering the recent data published in the medical literature and the high percentage of patients in Spain with CKD of non-inherited etiology&#44; we believe that genetics should be progressively incorporated into routine clinical practice&#46; In this editorial we will outline some of the preliminary data following the development of a specialized clinic on possible hereditary diseases attached to the Nephrology Department of the Hospital Universitario 12 de Octubre&#46; The development of this consultation should provide answers to a series of questions such as&#58; how to incorporate genetic diagnosis into a nephrology consultation in the public health system&#63;&#44; should it be incorporated&#63;&#59; is it cost-effective&#63;&#59; is it clinically profitable&#63; &#59; does it have ethical implications&#63;</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">A walk through history</span><p id="par0035" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleDisplayedQuote" id="dsq0010"><p id="spar0025" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleItalic">&#34;This missing science of heredity&#44; this unworked mine of knowledge on the borderland of biology and anthropology&#44; which for all practical purposes is as unworked now as it was in the days of Plato&#44; is&#44; in simple truth&#44; ten times more important to humanity than all the chemistry and physics&#44; all the technical and industrial science that ever has been or ever will be discovered&#46;&#34;</span></p><p id="spar0030" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleItalic">Herbert G&#46; Wells&#44; 1903</span></p></span></p><p id="par0040" class="elsevierStylePara elsevierViewall">The history of genetics has its origins in the gloomy garden of a Moravian monastery&#44; where the botanist and monk Gregor Mendel grew his peas and in 1864 ended up creating the term &#34;gene&#44;&#34; which would fall into disuse a few decades&#46; This story intersects with Darwin&#39;s theory of evolution and both circumstances fascinated English-speaking reformers&#46; The great wars that ravaged Europe caused the gene theories to be forgotten&#44; theories that were taken up again after World War I by Nazi Germany&#44; with its theories on eugenics&#46; After World War II&#44; a chain of discoveries set in motion a revolution in biology with the identification of deoxyribonucleic acid &#40;DNA&#41; as the source of genetic information&#46; In 1971&#44; genetics underwent one of its greatest transformations with the creation of the first recombinant DNA molecule by Berg and Jackson&#46; Previously&#44; James Watson&#44; Francis Crick&#44; Maurice Wilkins&#44; and Rosalind Franklin had discovered the three-dimensional structure of DNA and disseminated the iconic image of the double helix&#46; The 1970s would be marked by technologies that transformed genetics&#44; such as gene sequencing and cloning&#46; In the 1980s&#44; geneticists began to use these techniques to map disease-related genes&#46; Walter Gilbert&#44; one of the pioneers of DNA sequencing&#44; had written on the edge of a napkin an estimate of the cost and manpower required to sequence all three billion base pairs of human DNA&#46; According to Gilbert&#44; some 50&#44;000 people would have to be employed for a year&#44; and his work would cost about &#36;3 billion&#44; one dollar per base&#46; The Human Genome Project was launched on January 29&#44; 1983&#46; In 1993&#44; the gene for Huntington&#39;s disease was isolated&#44; followed by the gene for cystic fibrosis&#46; The identification of disease-related genes heralded a new era of genetic intervention and was the prologue to the history that biologists are now writing&#46;</p><p id="par0045" class="elsevierStylePara elsevierViewall">At the beginning of the 1990s the main gene related to polycystic kidney disease&#44; the PKD1 gene&#44; located on chromosome 16&#44; was identified&#44; and later D&#46; J&#46; Peters&#44; of the University of Leiden&#44; identified the second gene involved in the development of this disease&#44; the PKD2 gene&#44; located on chromosome 4&#46;<a class="elsevierStyleCrossRefs" href="#bib0070"><span class="elsevierStyleSup">14&#8211;16</span></a> These discoveries have made it possible to establish a close genotype-phenotype correlation over the years&#46; At present&#44; it is likely that there are more than 100 hereditary nephropathies&#44; a number that is increasing every day thanks to massive exome sequencing techniques&#46; In 2016&#44; researchers described the third gene related to polycystic kidney disease&#44; the GANAB gene&#44; and at the end of 2018&#44; others discovered a fourth gene with possible pathogenic involvement&#44; named DNAJB11&#46;<a class="elsevierStyleCrossRefs" href="#bib0085"><span class="elsevierStyleSup">17&#44;18</span></a> Finally&#44; in late 2019&#44; researchers reported a fifth gene&#44; ALG9&#44; with pathogenic implications for the development of renal and hepatic cysts&#46;<a class="elsevierStyleCrossRef" href="#bib0095"><span class="elsevierStyleSup">19</span></a></p><p id="par0050" class="elsevierStylePara elsevierViewall">In short&#44; this leisurely stroll through history will become a frenetic journey in the years to come&#44; punctuated by constant genetic discoveries and numerous attempts to establish clinical correlations&#44; targeted treatments and gene therapies that will change the natural history of medicine&#46; From that quiet monastery in Moravia to a myriad of virtual networks that will probably surpass all the expectations dreamed of by the brilliant researchers who devoted their lives to scrutinizing the mysteries of a double helix that allowed them to move into reveries that will probably come true in the coming decades&#46; The solitary wanderer&#44; Mendel&#44; probably harbored dreams&#44; that Jean-Jacques Rousseau could not have imagined in the 18th century&#44; when he wrote his erudite words as a testament&#46;</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Justification</span><p id="par0055" class="elsevierStylePara elsevierViewall">The high percentage of patients with CKD of non-filial etiology has deleterious consequences on therapy&#44; does not allow predicting the possibility of recurrence of the primary disease after receiving a renal transplant&#44; and prevents family counseling and studies from being performed in the rest of the potentially diseased family members&#46; In turn&#44; it may lead to unnecessary invasive interventions&#44; such as sterile immunosuppressive treatments or&#44; on the contrary&#44; the exclusion of patients who could benefit from them&#46;</p><p id="par0060" class="elsevierStylePara elsevierViewall">The creation of a specialized clinic for hereditary diseases leads to a more rational use of resources and not necessarily to an increase in costs&#44; as initially might be expected&#46; The correct diagnosis of hereditary diseases correlates with a better therapeutic approach and with the recognition of all familial cases&#44; making it possible to adopt preventive follow-up measures&#44; which can translate into marked economic savings&#44; a reduction in complications and a clear decrease in the development of CKD&#46; The development of CKD involves&#44; as is well known&#44; an enormous economic cost for the system and a great emotional burden for the families&#44; who are reflected in the evolutionary mirror of their predecessors&#46;</p><p id="par0065" class="elsevierStylePara elsevierViewall">For all these reasons&#44; the incorporation of genetics in selected cases of patients with CKD of unknown etiology has important implications for the health system and&#44; therefore&#44; the creation of a hereditary disease clinic can be considered a peremptory necessity in current nephrology&#46;</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0020">Objectives</span><p id="par0070" class="elsevierStylePara elsevierViewall">The main objective of these clinics should be to establish a reliable diagnosis in those patients with CKD of unknown etiology or to confirm clinical suspicion in those patients with a high suspicion of genetic renal disease&#46;</p><p id="par0075" class="elsevierStylePara elsevierViewall">Among the secondary objectives&#44; we highlight the following&#58;<ul class="elsevierStyleList" id="lis0005"><li class="elsevierStyleListItem" id="lsti0005"><span class="elsevierStyleLabel">-</span><p id="par0080" class="elsevierStylePara elsevierViewall">Incorporate the Genetics Service into routine clinical practice&#44; not only through the performance of diagnostic genetic studies&#44; but also through its fundamental role in genetic counseling&#46;</p></li><li class="elsevierStyleListItem" id="lsti0010"><span class="elsevierStyleLabel">-</span><p id="par0085" class="elsevierStylePara elsevierViewall">As a result of the above&#44; it is essential to establish preimplantation embryo selection programs in women of childbearing age&#46;</p></li><li class="elsevierStyleListItem" id="lsti0015"><span class="elsevierStyleLabel">-</span><p id="par0090" class="elsevierStylePara elsevierViewall">Avoid unnecessary and ineffective diagnostic tests and intensive treatments&#46; Adapt the patient&#39;s treatment to his or her needs&#46;</p></li><li class="elsevierStyleListItem" id="lsti0020"><span class="elsevierStyleLabel">-</span><p id="par0095" class="elsevierStylePara elsevierViewall">Optimize the complementary tests requested&#44; avoiding unnecessary and lengthy explorations in the absence of a diagnosis of certainty&#46;</p></li><li class="elsevierStyleListItem" id="lsti0025"><span class="elsevierStyleLabel">-</span><p id="par0100" class="elsevierStylePara elsevierViewall">Incorporate patients into clinical trials aimed at the specific therapeutic target&#46;</p></li><li class="elsevierStyleListItem" id="lsti0030"><span class="elsevierStyleLabel">-</span><p id="par0105" class="elsevierStylePara elsevierViewall">Incorporate other hospital services&#44; given that in many cases these are systemic diseases that require the collaboration of other specialists&#46;</p></li><li class="elsevierStyleListItem" id="lsti0035"><span class="elsevierStyleLabel">-</span><p id="par0110" class="elsevierStylePara elsevierViewall">Enable training of nephrologists and even other specialists interested in hereditary renal diseases&#46;</p></li></ul></p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Preliminary experience</span><p id="par0115" class="elsevierStylePara elsevierViewall">Following this line of thought&#44; in March 2017 the Nephrology Service of the Hospital Universitario 12 de Octubre de Madrid decided to create a specialized clinic for cystic and hereditary renal diseases&#46; The service generated a protocol for the early identification of these diseases&#44; with all patients previously diagnosed in other nephrology outpatient clinics referred to this clinic&#46; In addition&#44; we discussed this protocol with the hemodialysis units in our health area&#44; as well as with the renal transplant clinic in an attempt to identify descendants of the affected patient <span class="elsevierStyleItalic">&#40;index case&#41;</span> who were potential carriers of the disease&#46; At the same time&#44; an information sheet has been prepared for the 18 primary care centers dependent on our hospital for the early identification of patients with cystic kidney disease or hereditary kidney disease&#46;</p><p id="par0120" class="elsevierStylePara elsevierViewall">Since December 2013&#44; the Hospital Universitario 12 de Octubre has served an area of approximately 400&#44;384 inhabitants&#46; Taking into account the incidence and prevalence of CKD in Spain and in the Community of Madrid&#44; as well as the percentages of non-inherited CKD in Spain by age group&#44; it was estimated that in one year we could evaluate approximately 200 patients with potential inherited diseases&#46;</p><p id="par0125" class="elsevierStylePara elsevierViewall">The support of the Genetic Service of our hospital is fundamental in this collaboration&#46; They perform an additional evaluation&#44; generating a genealogical tree for every patient who is going to undergo a specific genetic study due to suspicion of hereditary renal disease&#46; This allows a proper study of the patient and its family with the possibility of identifying a larger number of affected patients&#46; Since June 2019&#44; the possibility of performing a complete exome sequencing has been incorporated&#46; This makes it possible to considerably enrich and increase the cost-effectiveness of genetic studies&#46;</p><p id="par0130" class="elsevierStylePara elsevierViewall">During the analysis period from March 2017 to May 2019&#44; we evaluated 280 patients with suspected hereditary disease&#46; Patients arrived from other general nephrology &#40;80&#37;&#41;&#44; pediatric nephrology &#40;10&#37;&#41;&#44; other specialties &#40;5&#46;1&#37;&#41;&#44; and primary care &#40;4&#46;8&#37;&#41; practices&#46;</p><p id="par0135" class="elsevierStylePara elsevierViewall">As of the evaluation date&#44; targeted genetic studies had been performed in 86 patients &#40;31&#37;&#41;&#46; The mean time between requesting the genetic study and obtaining it was 2 months&#46; The results of the studies are presented below&#58;<ul class="elsevierStyleList" id="lis0010"><li class="elsevierStyleListItem" id="lsti0040"><span class="elsevierStyleLabel">&#8226;</span><p id="par0140" class="elsevierStylePara elsevierViewall">PKD1 mutation&#58; 42 &#40;48&#46;8&#37;&#41; patients&#44; 3 of them truncated&#46;</p></li><li class="elsevierStyleListItem" id="lsti0045"><span class="elsevierStyleLabel">&#8226;</span><p id="par0145" class="elsevierStylePara elsevierViewall">PKD2 mutation&#58; 10 patients&#46;</p></li><li class="elsevierStyleListItem" id="lsti0050"><span class="elsevierStyleLabel">&#8226;</span><p id="par0150" class="elsevierStylePara elsevierViewall">COL4A3 mutation&#58; 3 patients&#46;</p></li><li class="elsevierStyleListItem" id="lsti0055"><span class="elsevierStyleLabel">&#8226;</span><p id="par0155" class="elsevierStylePara elsevierViewall">COL4A5 mutation&#58; 6 patients&#46;</p></li><li class="elsevierStyleListItem" id="lsti0060"><span class="elsevierStyleLabel">&#8226;</span><p id="par0160" class="elsevierStylePara elsevierViewall">Mutation in UMOD&#58; 2 patients&#46;</p></li><li class="elsevierStyleListItem" id="lsti0065"><span class="elsevierStyleLabel">&#8226;</span><p id="par0165" class="elsevierStylePara elsevierViewall">NPHS2 mutation&#58; 2 patients&#46;</p></li><li class="elsevierStyleListItem" id="lsti0070"><span class="elsevierStyleLabel">&#8226;</span><p id="par0170" class="elsevierStylePara elsevierViewall">TRCP-6 mutation&#58; one patient&#46;</p></li><li class="elsevierStyleListItem" id="lsti0075"><span class="elsevierStyleLabel">&#8226;</span><p id="par0175" class="elsevierStylePara elsevierViewall">Other genes&#58; 6 patients&#46;</p></li><li class="elsevierStyleListItem" id="lsti0080"><span class="elsevierStyleLabel">&#8226;</span><p id="par0180" class="elsevierStylePara elsevierViewall">Without mutations&#58; 14 &#40;16&#46;3&#37;&#41; patients&#46;</p></li></ul></p><p id="par0185" class="elsevierStylePara elsevierViewall">Some 25&#46;7&#37; of the patients evaluated in the clinic had mutations and in 83&#46;7&#37; of the patients in whom a genetic study was requested&#44; results comparable to those described in the medical literature&#44; despite the fact that complete exome sequencing techniques were not used initially&#46; The finding of these genetic mutations resulted in changes in the clinical and therapeutic management of the patient&#44; as well as in important vital and prognostic implications for patients and their families&#46; As described in the previously mentioned studies&#44; the genetic results led to a modification in the therapeutic approach in 80&#37; of the patients and multidisciplinary collaboration in at least 40&#8211;50 &#37; of the cases&#46;</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Potential benefits&#44; barriers to development and final considerations</span><p id="par0190" class="elsevierStylePara elsevierViewall">As we have tried to reflect throughout this text&#44; monogenic diseases are underestimated and continue to be a very important cause of CKD&#46; It is considered that they may account for 70&#37; of the causes of terminal CKD in children and 10&#8211;15 &#37; in the adult population&#46; According to data from the <span class="elsevierStyleItalic">European Renal Association&#44;</span> 27&#37; of patients with kidney disease have an uncertain diagnosis&#44; and according to the <span class="elsevierStyleItalic">US Renal Data System&#44;</span> these percentages are 22&#37; in the pediatric population and 18&#37; in adults&#46;<a class="elsevierStyleCrossRefs" href="#bib0100"><span class="elsevierStyleSup">20&#44;21</span></a> As reflected in a recent review by Torra et al&#46;&#44; we should probably add the inconsistent diagnoses of hypertensive nephropathy&#47;nephroangiosclerosis&#44; chronic glomerulonephritis and diabetic nephropathy without renal biopsy&#46; Regarding the latter disease&#44; I would like to highlight the attempt by Garcia et al&#46; to find a risk score&#44; pending definitive validation&#44; to predict which patients with diabetes mellitus should undergo a potential renal biopsy for presenting a high probability of suffering a nosological entity other than diabetic nephropathy&#46;<a class="elsevierStyleCrossRef" href="#bib0110"><span class="elsevierStyleSup">22</span></a> In addition&#44; about 30&#37; of patients with CKD have a family member with the disease&#44; which points to the genetic substrate of many of these conditions&#46;</p><p id="par0195" class="elsevierStylePara elsevierViewall">Mutations in about 400 genes have been linked to inherited renal diseases&#46; Early detection of these mutations may have important implications for the patient and family&#44; in terms of treatment&#44; prognosis&#44; genetic counseling and screening in at-risk relatives&#46; The use of next generation sequencing techniques has significantly increased the diagnostic possibilities&#46; The percentages of certainty of diagnosis have increased to 55&#8211;80 &#37; in patients with Alport syndrome and up to 64&#37; in patients with suspected tubulopathies&#46;<a class="elsevierStyleCrossRefs" href="#bib0115"><span class="elsevierStyleSup">23&#8211;25</span></a> Therefore&#44; there is a widespread consensus on the benefits of its use in routine clinical practice&#46; Among them&#44; we could highlight the following&#58;<ul class="elsevierStyleList" id="lis0015"><li class="elsevierStyleListItem" id="lsti0085"><span class="elsevierStyleLabel">-</span><p id="par0200" class="elsevierStylePara elsevierViewall">The possibility of reaching an accurate diagnosis of the underlying cause of the disease by a minimally invasive and increasingly cost-effective method&#46; It can avoid the &#34;odyssey&#34; of unnecessary and invasive diagnostic tests &#40;e&#46;g&#46;&#44; renal biopsy&#41; that can lead to misdiagnosis and incorrect and deleterious treatment&#46; One of the most illustrative examples is that of Alport syndrome&#44; an entity that is often mistaken for primary focal segmental hyalinosis&#44; with the consequent use of immunosuppressive treatment&#46;</p></li><li class="elsevierStyleListItem" id="lsti0090"><span class="elsevierStyleLabel">-</span><p id="par0205" class="elsevierStylePara elsevierViewall">It enables the search for and potential treatment of specific extrarenal manifestations&#44; with the need for the participation of other specialties&#46;</p></li><li class="elsevierStyleListItem" id="lsti0095"><span class="elsevierStyleLabel">-</span><p id="par0210" class="elsevierStylePara elsevierViewall">It provides guidance for making <span class="elsevierStyleItalic">appropriate</span> therapeutic decisions &#40;e&#46;g&#46;&#44; avoiding immunosuppressive treatments in genetic forms of nephrotic syndrome&#41; and establishes a more accurate prognosis&#46;</p></li><li class="elsevierStyleListItem" id="lsti0100"><span class="elsevierStyleLabel">-</span><p id="par0215" class="elsevierStylePara elsevierViewall">It can be crucial to perform appropriate genetic counseling ranging from recurrence&#44; through risks and ending with reproductive options &#40;<span class="elsevierStyleItalic">preimplantation embryo selection</span>&#41;&#44; and in some cases&#44; pre-symptomatic studies&#46;</p></li><li class="elsevierStyleListItem" id="lsti0105"><span class="elsevierStyleLabel">-</span><p id="par0220" class="elsevierStylePara elsevierViewall">Its impact on renal transplantation&#44; especially in living related donor renal transplantation&#46;</p></li><li class="elsevierStyleListItem" id="lsti0110"><span class="elsevierStyleLabel">-</span><p id="par0225" class="elsevierStylePara elsevierViewall">It can lead to significant economic savings&#44; although cost-effectiveness studies are necessary&#46;</p></li></ul></p><p id="par0230" class="elsevierStylePara elsevierViewall">Despite the strong evidence supporting its utility&#44; its use continues to be scarce in clinical routine&#44; especially in adult nephrology&#46; Among the main limitations to its implementation&#44; the following should be highlighted&#58;<ul class="elsevierStyleList" id="lis0020"><li class="elsevierStyleListItem" id="lsti0115"><span class="elsevierStyleLabel">-</span><p id="par0235" class="elsevierStylePara elsevierViewall">Concern about its costs and generalization in the development of conventional clinical practice&#46;</p></li><li class="elsevierStyleListItem" id="lsti0120"><span class="elsevierStyleLabel">-</span><p id="par0240" class="elsevierStylePara elsevierViewall">Lack of genetic knowledge on the part of nephrologists&#46;</p></li><li class="elsevierStyleListItem" id="lsti0125"><span class="elsevierStyleLabel">-</span><p id="par0245" class="elsevierStylePara elsevierViewall">Need for multidisciplinary teams&#46;</p></li><li class="elsevierStyleListItem" id="lsti0130"><span class="elsevierStyleLabel">-</span><p id="par0250" class="elsevierStylePara elsevierViewall">Lack of perceived benefit&#46;</p></li><li class="elsevierStyleListItem" id="lsti0135"><span class="elsevierStyleLabel">-</span><p id="par0255" class="elsevierStylePara elsevierViewall">Difficulty in interpreting genetic variants&#46;</p></li><li class="elsevierStyleListItem" id="lsti0140"><span class="elsevierStyleLabel">-</span><p id="par0260" class="elsevierStylePara elsevierViewall">Need for pre- and post-test counseling&#46;</p></li><li class="elsevierStyleListItem" id="lsti0145"><span class="elsevierStyleLabel">-</span><p id="par0265" class="elsevierStylePara elsevierViewall">Presence of unexpected or unknown phenotypes such as allelic heterogeneity&#44; incomplete penetrance&#44; epigenetic regulation&#44; mosaicism&#46;</p></li></ul></p><p id="par0270" class="elsevierStylePara elsevierViewall">In Spain&#44; great advances have been made in recent years to try to increase the percentage of patients with a reliable diagnosis&#46; We would like to highlight the work of R&#46; Torra&#39;s group&#44; whose work&#44; extensive experience&#44; and good teaching have brought genetics closer to the routine practice of nephrology&#46; His recent publication on Alport syndrome with autosomal dominant inheritance is&#44; once again&#44; a relevant contribution that may lead to a paradigm shift in the approach to these patients&#46;<a class="elsevierStyleCrossRef" href="#bib0130"><span class="elsevierStyleSup">26</span></a> In line with this group&#44; many nephrology departments have joined this attempt to incorporate genetics into the conventional practice of nephrology&#46;</p><p id="par0275" class="elsevierStylePara elsevierViewall">In short&#44; the ultimate goal is to make the complex seem easy&#44; so that its use becomes a routine practice&#44; always under the protection of a judicious use&#46;</p><p id="par0280" class="elsevierStylePara elsevierViewall">In line with the possible upcoming changes in the use of genetics in the medicine of the future&#44; we would finally like to highlight a recently published experience on the ultrafast use of genome sequencing&#46; This work describes&#44; for the first time&#44; a method of ultrafast genome sequencing in critically ill patients&#46; It was developed in 12 patients from two centers at Stanford&#59; in five of them an early genetic diagnosis is established with a time to result of less than 8&#8239;h&#46; The authors conclude that these techniques can guide the clinical approach&#44; improve prognosis&#44; and reduce costs in these types of patients&#46;<a class="elsevierStyleCrossRef" href="#bib0135"><span class="elsevierStyleSup">27</span></a></p></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Epilogue</span><p id="par0285" class="elsevierStylePara elsevierViewall">Rita Levi-Montalcini received the Nobel Prize in Medicine in 1986 for her discoveries on growth factors in neurobiology&#46; She thus became one of only 12 women to have received the Nobel Prize in Medicine and Physiology&#44; taking over from Gerty Theresa Cory&#44; the first woman to receive the prize in this category for her discoveries on the catalytic conversion processes of glycogen&#46; In one of her delightful books&#44; which doubles as a memoir&#44; entitled In Praise of Imperfection&#44; the Turin-born Rita Levi-Montalcino perfectly expresses the following words&#58; &#34;Truth is not a fact that we can discover&#44; just as we cannot know in advance which observations are relevant and which are not&#59; every discovery&#44; everything that helps us to understand better&#44; is born as a prediction of what can be&#46; This predictive imagination is a creative act of the mind&#59; it is mental work&#44; an inner inspiration&#44; not the consequence of a programmed investigation&#46;&#34;</p><p id="par0290" class="elsevierStylePara elsevierViewall">This editorial was born from a similar inner inspiration&#44; I believe&#44; and from the need to incorporate genetics into the new medicine&#46; G&#46;C&#46; Lichtenberg&#44; an 18th century German scientist and writer&#44; said that there is no more interesting surface on earth than the human face&#44; and I dare to say that in medicine there is no more interesting surface than the set of genes under study&#46;</p><p id="par0295" class="elsevierStylePara elsevierViewall">This editorial is also born out of a fascination&#58; a fascination with the idea that the genetic character of a disease can be <span class="elsevierStyleItalic">revealed</span> by clinical and&#44; especially&#44; phenotypic signs&#46; That is&#44; by what we might call the &#34;Dorian Gray effect&#46;&#34; The most significant thing in Wilde&#39;s story is not the unfolding of Dorian in the portrait&#44; but the fact that the growing dissipation and abjection in the life of the beautiful young man are gradually reflected in his true face&#44; the portrait&#8217;s&#44; which gradually becomes monstrous&#46; In the end&#44; the interior and exterior merge&#44; and the latter becomes the perfect reflection of the former&#46;</p><p id="par0300" class="elsevierStylePara elsevierViewall">Whether it is part of the body or part of the soul&#44; or both indistinguishable&#44; the genome has not yet revealed its secret&#46; On the one hand&#44; it is the space where the inside and the outside touch and merge&#59; a canvas on which one writes from the inside&#44; one writes from the outside&#44; one writes from before writing&#44; and one does not stop writing until the end&#58; until there is only an <span class="elsevierStyleItalic">outside</span> without an <span class="elsevierStyleItalic">inside&#46;</span> So we live incarnated in genes that cannot stop for a moment from expressing and signifying themselves&#44; nor from responding&#44; for better or worse&#44; to the challenges in their nature&#46;</p><p id="par0305" class="elsevierStylePara elsevierViewall">Scientists divide but clinicians discriminate&#46; To sum the parts&#44; we must begin by dividing the sum into parts&#46; Once we perceive human organisms as the fruit of interactions between genes&#44; external environments&#44; and gene environments&#44; our view of human beings undergoes a fundamental change&#46; At times one comes to wonder what is normal or natural&#44; what is not subject to variations&#44; mutations&#44; changes&#44; to inconstancy&#46; Since DNA&#44; a molecule full of contradictions&#44; is responsible for our code&#44; it is not surprising that we are a set of contradictions&#46; We look for consistency in heredity and find the opposite&#58; variation&#46; Mutations are necessary to maintain our individuality&#44; they are paired opposing strands&#46;</p><p id="par0310" class="elsevierStylePara elsevierViewall">Genetics modifies our lives&#46; The hope of being able to change the course of history has always been a desire&#46; Ameliorating the consequences of adverse genetics will probably be the common thread of this project&#46;<span class="elsevierStyleDisplayedQuote" id="dsq0015"><p id="spar0035" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleItalic">&#34; Human beings are ultimately nothing but carriers&#8212;passageways&#8212;for genes&#46; They ride us into the ground like racehorses from generation to generation&#46; Genes don&#39;t think about what constitutes good or evil&#46; They don&#39;t care whether we are happy or unhappy&#46; We&#39;re just means to an end for them&#46; The only thing they think about is what is most efficient for them&#46;&#34;</span></p><p id="spar0040" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleItalic">Haruki Murakami&#44; 1Q84</span></p></span></p></span></span>"
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                            4 => "D&#46; Nitsch"
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                            3 => "J&#46;O&#46; Krisher"
                            4 => "A&#46;S&#46; Narva"
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Editorial
Why should genetic testing be incorporated into routine clinical practice in nephrology? The utility of specialized clinics. An emerging need
¿Por qué se debe incorporar el estudio genético a la práctica clínica habitual en nefrología? La utilidad de consultas monográficas. Una necesidad emergente
Eduardo Gutiérrez
Corresponding author
eduardogutmat90@gmail.com

Corresponding author.
, Hernando Trujillo, Lucía Aubert, Justo Sandino, Enrique Morales, Pilar Auñón, Teresa Cavero, Enrique Morales, Manuel Praga
Hospital Universitario 12 de Octubre, Madrid, Spain
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    "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Introduction</span><p id="par0005" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleDisplayedQuote" id="dsq0005"><p id="spar0005" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleItalic">&#34;The lineage of such men as you cannot have been lost&#46;&#34;</span></p><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleItalic">Menelaus&#44; The Odyssey</span></p><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleItalic">&#34;An exact determination of the laws of heredity will probably work more change in a man&#39;s outlook on the world and in his power over nature that any other advance in natural knowledge that can be clearly foreseen&#46;&#34;</span></p><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleItalic">William Bateson&#44; 1900</span></p></span></p><p id="par0010" class="elsevierStylePara elsevierViewall">Chronic kidney disease &#40;CKD&#41; is a worldwide public health problem&#46; Approximately 1&#37; of the population requires renal replacement therapy&#44; but it consumes up to 5&#37; of the health system budget&#46; The assessment of the prevalence of CKD and the development of specific programs in health systems to reduce its consequences are currently considered basic public health strategies&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;2</span></a> According to the latest records of the Spanish Society of Nephrology&#44; the incidence of CKD in Spain is 151&#46;9&#8239;pmp&#44; with a wide range from 41&#8239;pmp in those younger than 44 years to 474&#46;1&#8239;pmp in those older than 75 years&#44; depending on the age of the population studied&#46;<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a></p><p id="par0015" class="elsevierStylePara elsevierViewall">One of the main problems when dealing with CKD in public health programs is the high percentage of patients who are diagnosed in very advanced stages of the disease&#44; a circumstance that undermines the effectiveness of preventive programs&#46; At present&#44; the mechanisms responsible for kidney disease remain unknown&#44; and few therapies are directed at a specific target&#46; Approximately 25&#37; of patients with CKD have or present a family history and Mendelian causes represent about 10&#37; of the etiologies of CKD&#44; and are the main cause of nephropathy in children&#46;<a class="elsevierStyleCrossRefs" href="#bib0020"><span class="elsevierStyleSup">4&#8211;7</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">It is estimated that approximately 10&#37; of adults worldwide with a recent diagnosis of CKD have an &#34;unknown&#44;&#34; &#34;other&#44;&#34; or &#34;not affiliated&#34; cause of disease&#46; This lack of specific or&#44; at best&#44; ambiguous diagnosis prevents adequate clinical management&#44; which makes it impossible to use targeted therapeutic approaches&#46; In Spain&#44; the results are no more flattering&#44; with a high percentage of patients lacking precise diagnoses&#44; as reflected in the records of the Spanish Society of Nephrology for the following age groups the &#8220;unknown diagnosis&#8221; is&#58; 15&#8211;44 years&#44; 7&#46;2&#37;&#59; 45&#8211;64 years&#44; 25&#46;6&#37;&#59; 65&#8211;74 years&#44; 27&#46;9&#37;&#59; and &#62;75 years&#44; 39&#46;3&#37;&#46;<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">8</span></a></p><p id="par0025" class="elsevierStylePara elsevierViewall">There are few studies on the cost-effectiveness of genetic analysis for the early and reliable diagnosis of renal diseases and family diagnoses&#46;<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">9&#44;10</span></a> Many patients are diagnosed at advanced stages of CKD &#40;stages 4 and 5&#41;&#44; at which time renal biopsies do not usually provide valid information&#44; hence the interest in early diagnosis&#46; Complete exome sequencing &#40;part of the genome formed by the exons&#44; i&#46;e&#46;&#44; the coding parts of the genes that will be part of the ribonucleic acid-messenger RNA&#41; is emerging as the first-line diagnostic method in some disciplines&#46; However&#44; its utility had not been adequately examined in renal diseases until the recent appearance of two papers that analyzed it in both adult and pediatric populations&#46; The first of these studies&#44; carried out in the adult population at Columbia University in New York&#44; studied 3&#44;315 patients with CKD&#44; identifying genetic alterations in 307 of them &#40;9&#46;3&#37;&#41;&#44; in accordance with the diagnostic variants defined and classified as pathogenic or probably pathogenic according to the guidelines of the <span class="elsevierStyleItalic">American College of Medical Genetics and Genomics&#46;</span><a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">11</span></a> Sixty-seven percent of the diagnosed entities had autosomal dominant inheritance&#44; 14&#37; autosomal recessive and 18&#37; X-linked inheritance&#46; The main etiological diagnosis was related to renal cystic diseases&#44; followed by collagen mutations and glomerular diseases&#46; The percentage of patients in whom a genetic alteration was identified was very similar to that of oncology patients&#44; in whom genomic diagnosis is routinely employed&#46; One of the most important messages of this study is the importance of the clinical implications on the progression of nephropathy&#44; family information and counseling&#44; the utility in selecting a family member as a potential living donor&#44; and the systemic implications of an etiological diagnosis&#46; Thus&#44; the genomic diagnosis of these patients caused 53&#37; of the patients to be referred to and evaluated by other specialists for presenting or associating with other extrarenal clinical manifestations&#46; The genetic diagnosis meant that in 89&#37; of the cases the clinical management of the patients was modified&#44; either with the suspension or initiation of immunosuppressive treatments&#44; or through the option of including the patients in clinical trials&#44; and above all with the possibility of carrying out targeted therapies&#44; avoiding unnecessary invasive procedures&#46; In light of these studies&#44; it will probably be necessary to reconsider the classification of diseases based on a molecular classification&#46; Sequentially&#44; Mann et al&#46; have published their results of complete sequencing of 104 pediatric patients at the time of kidney transplantation at <span class="elsevierStyleItalic">Boston Children&#39;s Hospital</span> in 2007&#8211;2017&#46;<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">12</span></a> Exome studies in patients under 25 years of age with CKD have identified pathogenic mutations related to their kidney disease in 20&#37; of them&#46;<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">13</span></a> In this group of 104 patients&#44; pathogenic genomic alterations were identified in 34 patients &#40;32&#46;7&#37;&#41;&#44; which translated into important implications in their management and clinical approach&#46; The diagnosis of diseases such as primary hyperoxaluria type <span class="elsevierStyleSmallCaps">I</span>&#44; Fabry disease&#44; Dent disease or the presence of mutations in glomerular diseases entails very important changes in treatment&#44; prognosis&#44; and family information&#46; For all these reasons&#44; there are more and more voices in the scientific world that advocate a genetic approach in patients with renal disease of unknown origin&#46; Supported by its proven clinical utility in different scenarios and the progressive reduction in price&#44; the exome study is becoming an efficient and cost-effective diagnostic test&#46;</p><p id="par0030" class="elsevierStylePara elsevierViewall">Considering the recent data published in the medical literature and the high percentage of patients in Spain with CKD of non-inherited etiology&#44; we believe that genetics should be progressively incorporated into routine clinical practice&#46; In this editorial we will outline some of the preliminary data following the development of a specialized clinic on possible hereditary diseases attached to the Nephrology Department of the Hospital Universitario 12 de Octubre&#46; The development of this consultation should provide answers to a series of questions such as&#58; how to incorporate genetic diagnosis into a nephrology consultation in the public health system&#63;&#44; should it be incorporated&#63;&#59; is it cost-effective&#63;&#59; is it clinically profitable&#63; &#59; does it have ethical implications&#63;</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">A walk through history</span><p id="par0035" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleDisplayedQuote" id="dsq0010"><p id="spar0025" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleItalic">&#34;This missing science of heredity&#44; this unworked mine of knowledge on the borderland of biology and anthropology&#44; which for all practical purposes is as unworked now as it was in the days of Plato&#44; is&#44; in simple truth&#44; ten times more important to humanity than all the chemistry and physics&#44; all the technical and industrial science that ever has been or ever will be discovered&#46;&#34;</span></p><p id="spar0030" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleItalic">Herbert G&#46; Wells&#44; 1903</span></p></span></p><p id="par0040" class="elsevierStylePara elsevierViewall">The history of genetics has its origins in the gloomy garden of a Moravian monastery&#44; where the botanist and monk Gregor Mendel grew his peas and in 1864 ended up creating the term &#34;gene&#44;&#34; which would fall into disuse a few decades&#46; This story intersects with Darwin&#39;s theory of evolution and both circumstances fascinated English-speaking reformers&#46; The great wars that ravaged Europe caused the gene theories to be forgotten&#44; theories that were taken up again after World War I by Nazi Germany&#44; with its theories on eugenics&#46; After World War II&#44; a chain of discoveries set in motion a revolution in biology with the identification of deoxyribonucleic acid &#40;DNA&#41; as the source of genetic information&#46; In 1971&#44; genetics underwent one of its greatest transformations with the creation of the first recombinant DNA molecule by Berg and Jackson&#46; Previously&#44; James Watson&#44; Francis Crick&#44; Maurice Wilkins&#44; and Rosalind Franklin had discovered the three-dimensional structure of DNA and disseminated the iconic image of the double helix&#46; The 1970s would be marked by technologies that transformed genetics&#44; such as gene sequencing and cloning&#46; In the 1980s&#44; geneticists began to use these techniques to map disease-related genes&#46; Walter Gilbert&#44; one of the pioneers of DNA sequencing&#44; had written on the edge of a napkin an estimate of the cost and manpower required to sequence all three billion base pairs of human DNA&#46; According to Gilbert&#44; some 50&#44;000 people would have to be employed for a year&#44; and his work would cost about &#36;3 billion&#44; one dollar per base&#46; The Human Genome Project was launched on January 29&#44; 1983&#46; In 1993&#44; the gene for Huntington&#39;s disease was isolated&#44; followed by the gene for cystic fibrosis&#46; The identification of disease-related genes heralded a new era of genetic intervention and was the prologue to the history that biologists are now writing&#46;</p><p id="par0045" class="elsevierStylePara elsevierViewall">At the beginning of the 1990s the main gene related to polycystic kidney disease&#44; the PKD1 gene&#44; located on chromosome 16&#44; was identified&#44; and later D&#46; J&#46; Peters&#44; of the University of Leiden&#44; identified the second gene involved in the development of this disease&#44; the PKD2 gene&#44; located on chromosome 4&#46;<a class="elsevierStyleCrossRefs" href="#bib0070"><span class="elsevierStyleSup">14&#8211;16</span></a> These discoveries have made it possible to establish a close genotype-phenotype correlation over the years&#46; At present&#44; it is likely that there are more than 100 hereditary nephropathies&#44; a number that is increasing every day thanks to massive exome sequencing techniques&#46; In 2016&#44; researchers described the third gene related to polycystic kidney disease&#44; the GANAB gene&#44; and at the end of 2018&#44; others discovered a fourth gene with possible pathogenic involvement&#44; named DNAJB11&#46;<a class="elsevierStyleCrossRefs" href="#bib0085"><span class="elsevierStyleSup">17&#44;18</span></a> Finally&#44; in late 2019&#44; researchers reported a fifth gene&#44; ALG9&#44; with pathogenic implications for the development of renal and hepatic cysts&#46;<a class="elsevierStyleCrossRef" href="#bib0095"><span class="elsevierStyleSup">19</span></a></p><p id="par0050" class="elsevierStylePara elsevierViewall">In short&#44; this leisurely stroll through history will become a frenetic journey in the years to come&#44; punctuated by constant genetic discoveries and numerous attempts to establish clinical correlations&#44; targeted treatments and gene therapies that will change the natural history of medicine&#46; From that quiet monastery in Moravia to a myriad of virtual networks that will probably surpass all the expectations dreamed of by the brilliant researchers who devoted their lives to scrutinizing the mysteries of a double helix that allowed them to move into reveries that will probably come true in the coming decades&#46; The solitary wanderer&#44; Mendel&#44; probably harbored dreams&#44; that Jean-Jacques Rousseau could not have imagined in the 18th century&#44; when he wrote his erudite words as a testament&#46;</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Justification</span><p id="par0055" class="elsevierStylePara elsevierViewall">The high percentage of patients with CKD of non-filial etiology has deleterious consequences on therapy&#44; does not allow predicting the possibility of recurrence of the primary disease after receiving a renal transplant&#44; and prevents family counseling and studies from being performed in the rest of the potentially diseased family members&#46; In turn&#44; it may lead to unnecessary invasive interventions&#44; such as sterile immunosuppressive treatments or&#44; on the contrary&#44; the exclusion of patients who could benefit from them&#46;</p><p id="par0060" class="elsevierStylePara elsevierViewall">The creation of a specialized clinic for hereditary diseases leads to a more rational use of resources and not necessarily to an increase in costs&#44; as initially might be expected&#46; The correct diagnosis of hereditary diseases correlates with a better therapeutic approach and with the recognition of all familial cases&#44; making it possible to adopt preventive follow-up measures&#44; which can translate into marked economic savings&#44; a reduction in complications and a clear decrease in the development of CKD&#46; The development of CKD involves&#44; as is well known&#44; an enormous economic cost for the system and a great emotional burden for the families&#44; who are reflected in the evolutionary mirror of their predecessors&#46;</p><p id="par0065" class="elsevierStylePara elsevierViewall">For all these reasons&#44; the incorporation of genetics in selected cases of patients with CKD of unknown etiology has important implications for the health system and&#44; therefore&#44; the creation of a hereditary disease clinic can be considered a peremptory necessity in current nephrology&#46;</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0020">Objectives</span><p id="par0070" class="elsevierStylePara elsevierViewall">The main objective of these clinics should be to establish a reliable diagnosis in those patients with CKD of unknown etiology or to confirm clinical suspicion in those patients with a high suspicion of genetic renal disease&#46;</p><p id="par0075" class="elsevierStylePara elsevierViewall">Among the secondary objectives&#44; we highlight the following&#58;<ul class="elsevierStyleList" id="lis0005"><li class="elsevierStyleListItem" id="lsti0005"><span class="elsevierStyleLabel">-</span><p id="par0080" class="elsevierStylePara elsevierViewall">Incorporate the Genetics Service into routine clinical practice&#44; not only through the performance of diagnostic genetic studies&#44; but also through its fundamental role in genetic counseling&#46;</p></li><li class="elsevierStyleListItem" id="lsti0010"><span class="elsevierStyleLabel">-</span><p id="par0085" class="elsevierStylePara elsevierViewall">As a result of the above&#44; it is essential to establish preimplantation embryo selection programs in women of childbearing age&#46;</p></li><li class="elsevierStyleListItem" id="lsti0015"><span class="elsevierStyleLabel">-</span><p id="par0090" class="elsevierStylePara elsevierViewall">Avoid unnecessary and ineffective diagnostic tests and intensive treatments&#46; Adapt the patient&#39;s treatment to his or her needs&#46;</p></li><li class="elsevierStyleListItem" id="lsti0020"><span class="elsevierStyleLabel">-</span><p id="par0095" class="elsevierStylePara elsevierViewall">Optimize the complementary tests requested&#44; avoiding unnecessary and lengthy explorations in the absence of a diagnosis of certainty&#46;</p></li><li class="elsevierStyleListItem" id="lsti0025"><span class="elsevierStyleLabel">-</span><p id="par0100" class="elsevierStylePara elsevierViewall">Incorporate patients into clinical trials aimed at the specific therapeutic target&#46;</p></li><li class="elsevierStyleListItem" id="lsti0030"><span class="elsevierStyleLabel">-</span><p id="par0105" class="elsevierStylePara elsevierViewall">Incorporate other hospital services&#44; given that in many cases these are systemic diseases that require the collaboration of other specialists&#46;</p></li><li class="elsevierStyleListItem" id="lsti0035"><span class="elsevierStyleLabel">-</span><p id="par0110" class="elsevierStylePara elsevierViewall">Enable training of nephrologists and even other specialists interested in hereditary renal diseases&#46;</p></li></ul></p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Preliminary experience</span><p id="par0115" class="elsevierStylePara elsevierViewall">Following this line of thought&#44; in March 2017 the Nephrology Service of the Hospital Universitario 12 de Octubre de Madrid decided to create a specialized clinic for cystic and hereditary renal diseases&#46; The service generated a protocol for the early identification of these diseases&#44; with all patients previously diagnosed in other nephrology outpatient clinics referred to this clinic&#46; In addition&#44; we discussed this protocol with the hemodialysis units in our health area&#44; as well as with the renal transplant clinic in an attempt to identify descendants of the affected patient <span class="elsevierStyleItalic">&#40;index case&#41;</span> who were potential carriers of the disease&#46; At the same time&#44; an information sheet has been prepared for the 18 primary care centers dependent on our hospital for the early identification of patients with cystic kidney disease or hereditary kidney disease&#46;</p><p id="par0120" class="elsevierStylePara elsevierViewall">Since December 2013&#44; the Hospital Universitario 12 de Octubre has served an area of approximately 400&#44;384 inhabitants&#46; Taking into account the incidence and prevalence of CKD in Spain and in the Community of Madrid&#44; as well as the percentages of non-inherited CKD in Spain by age group&#44; it was estimated that in one year we could evaluate approximately 200 patients with potential inherited diseases&#46;</p><p id="par0125" class="elsevierStylePara elsevierViewall">The support of the Genetic Service of our hospital is fundamental in this collaboration&#46; They perform an additional evaluation&#44; generating a genealogical tree for every patient who is going to undergo a specific genetic study due to suspicion of hereditary renal disease&#46; This allows a proper study of the patient and its family with the possibility of identifying a larger number of affected patients&#46; Since June 2019&#44; the possibility of performing a complete exome sequencing has been incorporated&#46; This makes it possible to considerably enrich and increase the cost-effectiveness of genetic studies&#46;</p><p id="par0130" class="elsevierStylePara elsevierViewall">During the analysis period from March 2017 to May 2019&#44; we evaluated 280 patients with suspected hereditary disease&#46; Patients arrived from other general nephrology &#40;80&#37;&#41;&#44; pediatric nephrology &#40;10&#37;&#41;&#44; other specialties &#40;5&#46;1&#37;&#41;&#44; and primary care &#40;4&#46;8&#37;&#41; practices&#46;</p><p id="par0135" class="elsevierStylePara elsevierViewall">As of the evaluation date&#44; targeted genetic studies had been performed in 86 patients &#40;31&#37;&#41;&#46; The mean time between requesting the genetic study and obtaining it was 2 months&#46; The results of the studies are presented below&#58;<ul class="elsevierStyleList" id="lis0010"><li class="elsevierStyleListItem" id="lsti0040"><span class="elsevierStyleLabel">&#8226;</span><p id="par0140" class="elsevierStylePara elsevierViewall">PKD1 mutation&#58; 42 &#40;48&#46;8&#37;&#41; patients&#44; 3 of them truncated&#46;</p></li><li class="elsevierStyleListItem" id="lsti0045"><span class="elsevierStyleLabel">&#8226;</span><p id="par0145" class="elsevierStylePara elsevierViewall">PKD2 mutation&#58; 10 patients&#46;</p></li><li class="elsevierStyleListItem" id="lsti0050"><span class="elsevierStyleLabel">&#8226;</span><p id="par0150" class="elsevierStylePara elsevierViewall">COL4A3 mutation&#58; 3 patients&#46;</p></li><li class="elsevierStyleListItem" id="lsti0055"><span class="elsevierStyleLabel">&#8226;</span><p id="par0155" class="elsevierStylePara elsevierViewall">COL4A5 mutation&#58; 6 patients&#46;</p></li><li class="elsevierStyleListItem" id="lsti0060"><span class="elsevierStyleLabel">&#8226;</span><p id="par0160" class="elsevierStylePara elsevierViewall">Mutation in UMOD&#58; 2 patients&#46;</p></li><li class="elsevierStyleListItem" id="lsti0065"><span class="elsevierStyleLabel">&#8226;</span><p id="par0165" class="elsevierStylePara elsevierViewall">NPHS2 mutation&#58; 2 patients&#46;</p></li><li class="elsevierStyleListItem" id="lsti0070"><span class="elsevierStyleLabel">&#8226;</span><p id="par0170" class="elsevierStylePara elsevierViewall">TRCP-6 mutation&#58; one patient&#46;</p></li><li class="elsevierStyleListItem" id="lsti0075"><span class="elsevierStyleLabel">&#8226;</span><p id="par0175" class="elsevierStylePara elsevierViewall">Other genes&#58; 6 patients&#46;</p></li><li class="elsevierStyleListItem" id="lsti0080"><span class="elsevierStyleLabel">&#8226;</span><p id="par0180" class="elsevierStylePara elsevierViewall">Without mutations&#58; 14 &#40;16&#46;3&#37;&#41; patients&#46;</p></li></ul></p><p id="par0185" class="elsevierStylePara elsevierViewall">Some 25&#46;7&#37; of the patients evaluated in the clinic had mutations and in 83&#46;7&#37; of the patients in whom a genetic study was requested&#44; results comparable to those described in the medical literature&#44; despite the fact that complete exome sequencing techniques were not used initially&#46; The finding of these genetic mutations resulted in changes in the clinical and therapeutic management of the patient&#44; as well as in important vital and prognostic implications for patients and their families&#46; As described in the previously mentioned studies&#44; the genetic results led to a modification in the therapeutic approach in 80&#37; of the patients and multidisciplinary collaboration in at least 40&#8211;50 &#37; of the cases&#46;</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Potential benefits&#44; barriers to development and final considerations</span><p id="par0190" class="elsevierStylePara elsevierViewall">As we have tried to reflect throughout this text&#44; monogenic diseases are underestimated and continue to be a very important cause of CKD&#46; It is considered that they may account for 70&#37; of the causes of terminal CKD in children and 10&#8211;15 &#37; in the adult population&#46; According to data from the <span class="elsevierStyleItalic">European Renal Association&#44;</span> 27&#37; of patients with kidney disease have an uncertain diagnosis&#44; and according to the <span class="elsevierStyleItalic">US Renal Data System&#44;</span> these percentages are 22&#37; in the pediatric population and 18&#37; in adults&#46;<a class="elsevierStyleCrossRefs" href="#bib0100"><span class="elsevierStyleSup">20&#44;21</span></a> As reflected in a recent review by Torra et al&#46;&#44; we should probably add the inconsistent diagnoses of hypertensive nephropathy&#47;nephroangiosclerosis&#44; chronic glomerulonephritis and diabetic nephropathy without renal biopsy&#46; Regarding the latter disease&#44; I would like to highlight the attempt by Garcia et al&#46; to find a risk score&#44; pending definitive validation&#44; to predict which patients with diabetes mellitus should undergo a potential renal biopsy for presenting a high probability of suffering a nosological entity other than diabetic nephropathy&#46;<a class="elsevierStyleCrossRef" href="#bib0110"><span class="elsevierStyleSup">22</span></a> In addition&#44; about 30&#37; of patients with CKD have a family member with the disease&#44; which points to the genetic substrate of many of these conditions&#46;</p><p id="par0195" class="elsevierStylePara elsevierViewall">Mutations in about 400 genes have been linked to inherited renal diseases&#46; Early detection of these mutations may have important implications for the patient and family&#44; in terms of treatment&#44; prognosis&#44; genetic counseling and screening in at-risk relatives&#46; The use of next generation sequencing techniques has significantly increased the diagnostic possibilities&#46; The percentages of certainty of diagnosis have increased to 55&#8211;80 &#37; in patients with Alport syndrome and up to 64&#37; in patients with suspected tubulopathies&#46;<a class="elsevierStyleCrossRefs" href="#bib0115"><span class="elsevierStyleSup">23&#8211;25</span></a> Therefore&#44; there is a widespread consensus on the benefits of its use in routine clinical practice&#46; Among them&#44; we could highlight the following&#58;<ul class="elsevierStyleList" id="lis0015"><li class="elsevierStyleListItem" id="lsti0085"><span class="elsevierStyleLabel">-</span><p id="par0200" class="elsevierStylePara elsevierViewall">The possibility of reaching an accurate diagnosis of the underlying cause of the disease by a minimally invasive and increasingly cost-effective method&#46; It can avoid the &#34;odyssey&#34; of unnecessary and invasive diagnostic tests &#40;e&#46;g&#46;&#44; renal biopsy&#41; that can lead to misdiagnosis and incorrect and deleterious treatment&#46; One of the most illustrative examples is that of Alport syndrome&#44; an entity that is often mistaken for primary focal segmental hyalinosis&#44; with the consequent use of immunosuppressive treatment&#46;</p></li><li class="elsevierStyleListItem" id="lsti0090"><span class="elsevierStyleLabel">-</span><p id="par0205" class="elsevierStylePara elsevierViewall">It enables the search for and potential treatment of specific extrarenal manifestations&#44; with the need for the participation of other specialties&#46;</p></li><li class="elsevierStyleListItem" id="lsti0095"><span class="elsevierStyleLabel">-</span><p id="par0210" class="elsevierStylePara elsevierViewall">It provides guidance for making <span class="elsevierStyleItalic">appropriate</span> therapeutic decisions &#40;e&#46;g&#46;&#44; avoiding immunosuppressive treatments in genetic forms of nephrotic syndrome&#41; and establishes a more accurate prognosis&#46;</p></li><li class="elsevierStyleListItem" id="lsti0100"><span class="elsevierStyleLabel">-</span><p id="par0215" class="elsevierStylePara elsevierViewall">It can be crucial to perform appropriate genetic counseling ranging from recurrence&#44; through risks and ending with reproductive options &#40;<span class="elsevierStyleItalic">preimplantation embryo selection</span>&#41;&#44; and in some cases&#44; pre-symptomatic studies&#46;</p></li><li class="elsevierStyleListItem" id="lsti0105"><span class="elsevierStyleLabel">-</span><p id="par0220" class="elsevierStylePara elsevierViewall">Its impact on renal transplantation&#44; especially in living related donor renal transplantation&#46;</p></li><li class="elsevierStyleListItem" id="lsti0110"><span class="elsevierStyleLabel">-</span><p id="par0225" class="elsevierStylePara elsevierViewall">It can lead to significant economic savings&#44; although cost-effectiveness studies are necessary&#46;</p></li></ul></p><p id="par0230" class="elsevierStylePara elsevierViewall">Despite the strong evidence supporting its utility&#44; its use continues to be scarce in clinical routine&#44; especially in adult nephrology&#46; Among the main limitations to its implementation&#44; the following should be highlighted&#58;<ul class="elsevierStyleList" id="lis0020"><li class="elsevierStyleListItem" id="lsti0115"><span class="elsevierStyleLabel">-</span><p id="par0235" class="elsevierStylePara elsevierViewall">Concern about its costs and generalization in the development of conventional clinical practice&#46;</p></li><li class="elsevierStyleListItem" id="lsti0120"><span class="elsevierStyleLabel">-</span><p id="par0240" class="elsevierStylePara elsevierViewall">Lack of genetic knowledge on the part of nephrologists&#46;</p></li><li class="elsevierStyleListItem" id="lsti0125"><span class="elsevierStyleLabel">-</span><p id="par0245" class="elsevierStylePara elsevierViewall">Need for multidisciplinary teams&#46;</p></li><li class="elsevierStyleListItem" id="lsti0130"><span class="elsevierStyleLabel">-</span><p id="par0250" class="elsevierStylePara elsevierViewall">Lack of perceived benefit&#46;</p></li><li class="elsevierStyleListItem" id="lsti0135"><span class="elsevierStyleLabel">-</span><p id="par0255" class="elsevierStylePara elsevierViewall">Difficulty in interpreting genetic variants&#46;</p></li><li class="elsevierStyleListItem" id="lsti0140"><span class="elsevierStyleLabel">-</span><p id="par0260" class="elsevierStylePara elsevierViewall">Need for pre- and post-test counseling&#46;</p></li><li class="elsevierStyleListItem" id="lsti0145"><span class="elsevierStyleLabel">-</span><p id="par0265" class="elsevierStylePara elsevierViewall">Presence of unexpected or unknown phenotypes such as allelic heterogeneity&#44; incomplete penetrance&#44; epigenetic regulation&#44; mosaicism&#46;</p></li></ul></p><p id="par0270" class="elsevierStylePara elsevierViewall">In Spain&#44; great advances have been made in recent years to try to increase the percentage of patients with a reliable diagnosis&#46; We would like to highlight the work of R&#46; Torra&#39;s group&#44; whose work&#44; extensive experience&#44; and good teaching have brought genetics closer to the routine practice of nephrology&#46; His recent publication on Alport syndrome with autosomal dominant inheritance is&#44; once again&#44; a relevant contribution that may lead to a paradigm shift in the approach to these patients&#46;<a class="elsevierStyleCrossRef" href="#bib0130"><span class="elsevierStyleSup">26</span></a> In line with this group&#44; many nephrology departments have joined this attempt to incorporate genetics into the conventional practice of nephrology&#46;</p><p id="par0275" class="elsevierStylePara elsevierViewall">In short&#44; the ultimate goal is to make the complex seem easy&#44; so that its use becomes a routine practice&#44; always under the protection of a judicious use&#46;</p><p id="par0280" class="elsevierStylePara elsevierViewall">In line with the possible upcoming changes in the use of genetics in the medicine of the future&#44; we would finally like to highlight a recently published experience on the ultrafast use of genome sequencing&#46; This work describes&#44; for the first time&#44; a method of ultrafast genome sequencing in critically ill patients&#46; It was developed in 12 patients from two centers at Stanford&#59; in five of them an early genetic diagnosis is established with a time to result of less than 8&#8239;h&#46; The authors conclude that these techniques can guide the clinical approach&#44; improve prognosis&#44; and reduce costs in these types of patients&#46;<a class="elsevierStyleCrossRef" href="#bib0135"><span class="elsevierStyleSup">27</span></a></p></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Epilogue</span><p id="par0285" class="elsevierStylePara elsevierViewall">Rita Levi-Montalcini received the Nobel Prize in Medicine in 1986 for her discoveries on growth factors in neurobiology&#46; She thus became one of only 12 women to have received the Nobel Prize in Medicine and Physiology&#44; taking over from Gerty Theresa Cory&#44; the first woman to receive the prize in this category for her discoveries on the catalytic conversion processes of glycogen&#46; In one of her delightful books&#44; which doubles as a memoir&#44; entitled In Praise of Imperfection&#44; the Turin-born Rita Levi-Montalcino perfectly expresses the following words&#58; &#34;Truth is not a fact that we can discover&#44; just as we cannot know in advance which observations are relevant and which are not&#59; every discovery&#44; everything that helps us to understand better&#44; is born as a prediction of what can be&#46; This predictive imagination is a creative act of the mind&#59; it is mental work&#44; an inner inspiration&#44; not the consequence of a programmed investigation&#46;&#34;</p><p id="par0290" class="elsevierStylePara elsevierViewall">This editorial was born from a similar inner inspiration&#44; I believe&#44; and from the need to incorporate genetics into the new medicine&#46; G&#46;C&#46; Lichtenberg&#44; an 18th century German scientist and writer&#44; said that there is no more interesting surface on earth than the human face&#44; and I dare to say that in medicine there is no more interesting surface than the set of genes under study&#46;</p><p id="par0295" class="elsevierStylePara elsevierViewall">This editorial is also born out of a fascination&#58; a fascination with the idea that the genetic character of a disease can be <span class="elsevierStyleItalic">revealed</span> by clinical and&#44; especially&#44; phenotypic signs&#46; That is&#44; by what we might call the &#34;Dorian Gray effect&#46;&#34; The most significant thing in Wilde&#39;s story is not the unfolding of Dorian in the portrait&#44; but the fact that the growing dissipation and abjection in the life of the beautiful young man are gradually reflected in his true face&#44; the portrait&#8217;s&#44; which gradually becomes monstrous&#46; In the end&#44; the interior and exterior merge&#44; and the latter becomes the perfect reflection of the former&#46;</p><p id="par0300" class="elsevierStylePara elsevierViewall">Whether it is part of the body or part of the soul&#44; or both indistinguishable&#44; the genome has not yet revealed its secret&#46; On the one hand&#44; it is the space where the inside and the outside touch and merge&#59; a canvas on which one writes from the inside&#44; one writes from the outside&#44; one writes from before writing&#44; and one does not stop writing until the end&#58; until there is only an <span class="elsevierStyleItalic">outside</span> without an <span class="elsevierStyleItalic">inside&#46;</span> So we live incarnated in genes that cannot stop for a moment from expressing and signifying themselves&#44; nor from responding&#44; for better or worse&#44; to the challenges in their nature&#46;</p><p id="par0305" class="elsevierStylePara elsevierViewall">Scientists divide but clinicians discriminate&#46; To sum the parts&#44; we must begin by dividing the sum into parts&#46; Once we perceive human organisms as the fruit of interactions between genes&#44; external environments&#44; and gene environments&#44; our view of human beings undergoes a fundamental change&#46; At times one comes to wonder what is normal or natural&#44; what is not subject to variations&#44; mutations&#44; changes&#44; to inconstancy&#46; Since DNA&#44; a molecule full of contradictions&#44; is responsible for our code&#44; it is not surprising that we are a set of contradictions&#46; We look for consistency in heredity and find the opposite&#58; variation&#46; Mutations are necessary to maintain our individuality&#44; they are paired opposing strands&#46;</p><p id="par0310" class="elsevierStylePara elsevierViewall">Genetics modifies our lives&#46; The hope of being able to change the course of history has always been a desire&#46; Ameliorating the consequences of adverse genetics will probably be the common thread of this project&#46;<span class="elsevierStyleDisplayedQuote" id="dsq0015"><p id="spar0035" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleItalic">&#34; Human beings are ultimately nothing but carriers&#8212;passageways&#8212;for genes&#46; They ride us into the ground like racehorses from generation to generation&#46; Genes don&#39;t think about what constitutes good or evil&#46; They don&#39;t care whether we are happy or unhappy&#46; We&#39;re just means to an end for them&#46; The only thing they think about is what is most efficient for them&#46;&#34;</span></p><p id="spar0040" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleItalic">Haruki Murakami&#44; 1Q84</span></p></span></p></span></span>"
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ISSN: 20132514
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