Response to Roberts et al. 2018: is breast cancer truly caused by MSH6 and PMS2 variants or is it simply due to a high prevalence of these variants in the population? Genet. Med. (IF 8.229) Pub Date : 2018-05-24 S. W. ten Broeke, M. Suerink, M. Nielsen
Response to Roberts et al. 2018: is breast cancer truly caused by MSH6 and PMS2 variants or is it simply due to a high prevalence of these variants in the population? Response to Roberts et al. 2018: is breast cancer truly caused by MSH6 and PMS2 variants or is it simply due to a high prevalence of these variants in the population?, Published online: 24 May 2018; doi:10.1038/s41436-018-0029-1 Response to Roberts et al. 2018: is breast cancer truly caused by MSH6 and PMS2 variants or is it simply due to a high prevalence of these variants in the population?
Response to ten Broeke et al. Genet. Med. (IF 8.229) Pub Date : 2018-05-24 Maegan E. Roberts, Nur Zeinomar, Benjamin D. Solomon, Mary Beth Terry, Wendy K. Chung
Response to ten Broeke et al. Response to ten Broeke et al., Published online: 24 May 2018; doi:10.1038/s41436-018-0031-7 Response to ten Broeke et al.
Secondary findings in exome slices, virtual panels, and anticipatory sequencing Genet. Med. (IF 8.229) Pub Date : 2018-05-22 Leslie G. Biesecker
Secondary findings in exome slices, virtual panels, and anticipatory sequencing Secondary findings in exome slices, virtual panels, and anticipatory sequencing, Published online: 22 May 2018; doi:10.1038/s41436-018-0019-3 Secondary findings in exome slices, virtual panels, and anticipatory sequencing
Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness Genet. Med. (IF 8.229) Pub Date : 2018-05-15 Zornitza Stark, Deborah Schofield, Melissa Martyn, Luke Rynehart, Rupendra Shrestha, Khurshid Alam, Sebastian Lunke, Tiong Y. Tan, Clara L. Gaff, Susan M. White
PurposeTo systematically investigate the longer-term clinical and health economic impacts of genomic sequencing for rare-disease diagnoses.MethodsWe collected information on continuing diagnostic investigation, changes in management, cascade testing, and parental reproductive outcomes in 80 infants who underwent singleton whole-exome sequencing (WES).ResultsThe median duration of follow-up following result disclosure was 473 days. Changes in clinical management due to diagnostic WES results led to a cost saving of AU$1,578 per quality-adjusted life year gained, without increased hospital service use. Uninformative WES results contributed to the diagnosis of non-Mendelian conditions in seven infants. Further usual diagnostic investigations in those with ongoing suspicion of a genetic condition yielded no new diagnoses, while WES data reanalysis yielded four. Reanalysis at 18 months was more cost-effective than every 6 months. The parents of diagnosed children had eight more ongoing pregnancies than those without a diagnosis. Taking the costs and benefits of cascade testing and reproductive service use into account, there was an additional cost of AU$8,118 per quality-adjusted life year gained due to genomic sequencing.ConclusionThese data strengthen the case for the early use of genomic testing in the diagnostic trajectory, and can guide laboratory policy on periodic WES data reanalysis.
Is universal tumor testing for Lynch syndrome cost-effective? It depends! Genet. Med. (IF 8.229) Pub Date : 2018-05-15 Scott D. Grosse
Is universal tumor testing for Lynch syndrome cost-effective? It depends!Is universal tumor testing for Lynch syndrome cost-effective? It depends!, Published online: 15 May 2018; doi:10.1038/s41436-018-0025-5Is universal tumor testing for Lynch syndrome cost-effective? It depends!
Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature Genet. Med. (IF 8.229) Pub Date : Hadley Stevens Smith, J. Michael Swint, Seema R. Lalani, Jose-Miguel Yamal, Marcia C. de Oliveira Otto, Stephan Castellanos, Amy Taylor, Brendan H. Lee, Heidi V. Russell
Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature, Published online: 14 May 2018; doi:10.1038/s41436-018-0024-6 Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature
Gain-of-function mutations in DNMT3A in patients with paraganglioma Genet. Med. (IF 8.229) Pub Date : 2018-05-08 Laura Remacha, Maria Currás-Freixes, Raúl Torres-Ruiz, Francesca Schiavi, Rafael Torres-Pérez, Bruna Calsina, Rocío Letón, Iñaki Comino-Méndez, Juan M Roldán-Romero, Cristina Montero-Conde, María Santos, Lucía Inglada Pérez, Guillermo Pita, María R. Alonso, Emiliano Honrado, Susana Pedrinaci, Benedicto Crespo-Facorro, Antonio Percesepe, Maurizio Falcioni, Sandra Rodríguez-Perales, Esther Korpershoek, Santiago Ramón-Maiques, Giuseppe Opocher, Cristina Rodríguez-Antona, Mercedes Robledo, Alberto Cascón
Purpose The high percentage of patients carrying germline mutations makes pheochromocytomas/paragangliomas the most heritable of all tumors. However, there are still cases unexplained by mutations in the known genes. We aimed to identify the genetic cause of disease in patients strongly suspected of having hereditary tumors. Methods Whole-exome sequencing was applied to the germlines of a parent–proband trio. Genome-wide methylome analysis, RNA-seq, CRISPR/Cas9 gene editing, and targeted sequencing were also performed. Results We identified a novel de novo germline mutation in DNMT3A, affecting a highly conserved residue located close to the aromatic cage that binds to trimethylated histone H3. DNMT3A-mutated tumors exhibited significant hypermethylation of homeobox-containing genes, suggesting an activating role of the mutation. CRISPR/Cas9-mediated knock-in in HeLa cells led to global changes in methylation, providing evidence of the DNMT3A-altered function. Targeted sequencing revealed subclonal somatic mutations in six additional paragangliomas. Finally, a second germline DNMT3A mutation, also causing global tumor DNA hypermethylation, was found in a patient with a family history of pheochromocytoma. Conclusion Our findings suggest that DNMT3A may be a susceptibility gene for paragangliomas and, if confirmed in future studies, would represent the first example of gain-of-function mutations affecting a DNA methyltransferase gene involved in cancer predisposition.
Validation of Version 3.0 of the Breast Cancer Genetics Referral Screening Tool (B-RST™) Genet. Med. (IF 8.229) Pub Date : 2018-05-08 Cecelia Bellcross, April Hermstad, Christine Tallo, Christine Stanislaw
Purpose Despite increased awareness of hereditary breast and ovarian cancer among clinicians and the public, many BRCA1/2 mutation carriers remain unaware of their risk status. The Breast Cancer Genetics Referral Screening Tool (B-RST™) was created and validated to easily identify individuals at increased risk for hereditary breast and ovarian cancer for referral to cancer genetics services. The purpose of this study was to revise B-RST™ to maximize sensitivity against BRCA1/2 mutation status. Methods We analyzed pedigrees of 277 individuals who had undergone BRCA1/2 testing to determine modifications to the B-RST™ 2.0 algorithm that would maximize sensitivity for mutations, while maintaining simplicity. We used McNemar’s chi-square test to compare validation measures between the revised version (3.0) and the 2.0 version. Results Algorithmic changes made to B-RST™ 2.0 increased the sensitivity against BRCA1/2 mutation analysis from 71.1 to 94.0% (P < 0.0001). While specificity decreased, all screen-positive individuals were appropriate for cancer genetics referral, the primary purpose of the tool. Conclusion Despite calls for BRCA1/2 population screening, there remains a critical need to identify those most at risk who should receive cancer genetics services. B-RST™ version 3.0 demonstrates high sensitivity for BRCA1/2 mutations, yet remains a simple and quick screening tool for at-risk individuals.
Universal screening of Lynch syndrome is ready for implementation Genet. Med. (IF 8.229) Pub Date : 2018-05-08 Marco Di Marco, Elvira D’Andrea, Paolo Villari
Universal screening of Lynch syndrome is ready for implementation Universal screening of Lynch syndrome is ready for implementation, Published online: 08 May 2018; doi:10.1038/s41436-018-0027-3 Universal screening of Lynch syndrome is ready for implementation
Attention: Direct-To-Consumer patrons: Proceed with caution Genet. Med. (IF 8.229) Pub Date : 2018-04-30 Michael J. Friez
Attention: Direct-To-Consumer patrons: Proceed with caution Attention: Direct-To-Consumer patrons: Proceed with caution, Published online: 30 April 2018; doi:10.1038/s41436-018-0030-8 Attention: Direct-To-Consumer patrons: Proceed with caution
Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) Genet. Med. (IF 8.229) Pub Date : 2018-04-26 Douglas R Stewart, Bruce R Korf, Katherine L Nathanson, David A Stevenson, Kaleb Yohay
Disclaimer: This practice resource is designed primarily as an educational resource for medical geneticists and other clinicians to help them provide quality medical services. Adherence to this practice resource is completely voluntary and does not necessarily assure a successful medical outcome. This practice resource should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the clinician should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen.
ERRATUM: Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment Genet. Med. (IF 8.229) Pub Date : 2018-04-26 Jipin Das K, Jodie Ingles, Richard D Bagnall, Christopher Semsarian
ERRATUM: Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment ERRATUM: Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment, Published online: 26 April 2018; doi:10.1038/gim.2018.21 ERRATUM: Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment
Prenatal cell-free DNA screening test failures: a systematic review of failure rates, risks of Down syndrome, and impact of repeat testing Genet. Med. (IF 8.229) Pub Date : 2018-04-26 Glenn E Palomaki, Edward M Kloza
We systematically reviewed the published literature on test failure rates for the sequencing of cell-free DNA (cfDNA) in maternal plasma to identify Down syndrome.
Phenotypic expansion illuminates multilocus pathogenic variation Genet. Med. (IF 8.229) Pub Date : 2018-04-26 Ender Karaca, Jennifer E Posey, Zeynep Coban Akdemir, Davut Pehlivan, Tamar Harel, Shalini N Jhangiani, Yavuz Bayram, Xiaofei Song, Vahid Bahrambeigi, Ozge Ozalp Yuregir, Sevcan Bozdogan, Gozde Yesil, Sedat Isikay, Donna Muzny, Richard A Gibbs, James R Lupski
Multilocus variation—pathogenic variants in two or more disease genes—can potentially explain the underlying genetic basis for apparent phenotypic expansion in cases for which the observed clinical features extend beyond those reported in association with a “known” disease gene.
Arno G. Motulsky, MD (1923–2018): Holocaust survivor who cofounded the field of medical genetics Genet. Med. (IF 8.229) Pub Date : 2018-04-24 Gail P Jarvik
Arno G. Motulsky, MD (1923–2018): Holocaust survivor who cofounded the field of medical genetics Arno G. Motulsky, MD (1923–2018): Holocaust survivor who cofounded the field of medical genetics, Published online: 24 April 2018; doi:10.1038/gim.2018.55 Arno G. Motulsky, MD (1923–2018): Holocaust survivor who cofounded the field of medical genetics
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly Genet. Med. (IF 8.229) Pub Date : 2018-04-19 Nataliya Di Donato, Andrew E Timms, Kimberly A Aldinger, Ghayda M Mirzaa, James T Bennett, Sarah Collins, Carissa Olds, Davide Mei, Sara Chiari, Gemma Carvill, Candace T Myers, Jean-Baptiste Rivière, Maha S Zaki, University of Washington Center for Mendelian Genomics, Joseph G Gleeson, Andreas Rump, Valerio Conti, Elena Parrini, M Elizabeth Ross, David H Ledbetter, Renzo Guerrini, William B Dobyns
To estimate diagnostic yield and genotype-phenotype correlations in a cohort of 811 patients with lissencephaly or subcortical band heterotopia.
Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation Genet. Med. (IF 8.229) Pub Date : 2018-04-12 Julie Leclerc, Cathy Flament, Tonio Lovecchio, Lucie Delattre, Emilie Ait Yahya, Stéphanie Baert-Desurmont, Nelly Burnichon, Myriam Bronner, Odile Cabaret, Sophie Lejeune, Rosine Guimbaud, Gilles Morin, Jacques Mauillon, Philippe Jonveaux, Pierre Laurent-Puig, Thierry Frébourg, Nicole Porchet, Marie-Pierre Buisine
Constitutional epimutations are an alternative to genetic mutations in the etiology of genetic diseases. Some of these epimutations, termed secondary, correspond to the epigenetic effects of cis-acting genetic defects transmitted to the offspring following a Mendelian inheritance pattern. In Lynch syndrome, a few families with such apparently heritable MLH1 epimutations have been reported so far.
Measuring coverage and accuracy of whole-exome sequencing in clinical context Genet. Med. (IF 8.229) Pub Date : 2018-04-12 Sek Won Kong, In-Hee Lee, Xuanshi Liu, Joel N Hirschhorn, Kenneth D Mandl
To evaluate the coverage and accuracy of whole-exome sequencing (WES) across vendors.
Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities Genet. Med. (IF 8.229) Pub Date : 2018-04-12 Monica H Wojcik, Talia S Schwartz, Inbar Yamin, Heather L Edward, Casie A Genetti, Meghan C Towne, Pankaj B Agrawal
Infants admitted to a level IV neonatal intensive care unit (NICU) who do not survive early childhood are a population that is probably enriched for rare genetic disease; we therefore characterized their genetic diagnostic evaluation.
Genomic sequencing identifies secondary findings in a cohort of parent study participants Genet. Med. (IF 8.229) Pub Date : 2018-04-12 Michelle L Thompson, Candice R Finnila, Kevin M Bowling, Kyle B Brothers, Matthew B Neu, Michelle D Amaral, Susan M Hiatt, Kelly M East, David E Gray, James M J Lawlor, Whitley V Kelley, Edward J Lose, Carla A Rich, Shirley Simmons, Shawn E Levy, Richard M Myers, Gregory S Barsh, E Martina Bebin, Gregory M Cooper
Clinically relevant secondary variants were identified in parents enrolled with a child with developmental delay and intellectual disability.
Point-of-care whole-exome sequencing of idiopathic male infertility Genet. Med. (IF 8.229) Pub Date : 2018-04-12 Khalid A Fakhro, Haitham Elbardisi, Mohamed Arafa, Amal Robay, Juan L Rodriguez-Flores, Alya Al-Shakaki, Najeeb Syed, Jason G Mezey, Charbel Abi Khalil, Joel A Malek, Abdulla Al-Ansari, Sami Al Said, Ronald G Crystal
Nonobstructive azoospermia (NOA) affects 1% of the male population; however, despite state-of-the-art clinical assessment, for most patients the cause is unknown. We capitalized on an analysis of multiplex families in the Middle East to identify highly penetrant genetic causes.
Expanding the phenome and variome of skeletal dysplasia Genet. Med. (IF 8.229) Pub Date : 2018-04-05 Sateesh Maddirevula, Saud Alsahli, Lamees Alhabeeb, Nisha Patel, Fatema Alzahrani, Hanan E Shamseldin, Shams Anazi, Nour Ewida, Hessa S Alsaif, Jawahir Y Mohamed, Anas M Alazami, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Mohamed Abouelhoda, Dorota Monies, Nada Al Tassan, Muneera Alshammari, Afaf Alsagheir, Mohammed Zain Seidahmed, Samira Sogati, Mona S Aglan, Muddathir H Hamad, Mustafa A Salih, Ahlam A Hamed, Nadia Alhashmi, Amira Nabil, Fatima Alfadli, Ghada M H Abdel-Salam, Hisham Alkuraya, Winnie Ong Peitee, W T Keng, Abdullah Qasem, Aziza M Mushiba, Maha S Zaki, Mahmoud R Fassad, Majid Alfadhel, Saji Alexander, Yasser Sabr, Samia Temtamy, Alka V Ekbote, Samira Ismail, Gamal Ahmed Hosny, Ghada A Otaify, Khalda Amr, Saeed Al Tala, Arif O Khan, Tamer Rizk, Aida Alaqeel, Abdulmonem Alsiddiky, Ankur Singh, Seema Kapoor, Amal Alhashem, Eissa Faqeih, Ranad Shaheen, Fowzan S Alkuraya
To describe our experience with a large cohort (411 patients from 288 families) of various forms of skeletal dysplasia who were molecularly characterized.
Familial communication and cascade testing among relatives of BRCA population screening participants Genet. Med. (IF 8.229) Pub Date : 2018-03-29 Sari Lieberman, Amnon Lahad, Ariela Tomer, Sivan Koka, Malka BenUziyahu, Aviad Raz, Ephrat Levy-Lahad
Population BRCA1/BRCA2 screening identifies carriers irrespective of family history, yet this information is actionable for relatives. We examined familial communication rates and cascade testing in the screening setting and assessed sociodemographic and psychosocial predictors.
AUDIOME: a tiered exome sequencing–based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss Genet. Med. (IF 8.229) Pub Date : 2018-03-29 Qiaoning Guan, Jorune Balciuniene, Kajia Cao, Zhiqian Fan, Sawona Biswas, Alisha Wilkens, Daniel J Gallo, Emma Bedoukian, Jennifer Tarpinian, Pushkala Jayaraman, Mahdi Sarmady, Matthew Dulik, Avni Santani, Nancy Spinner, Ahmad N Abou Tayoun, Ian D Krantz, Laura K Conlin, Minjie Luo
Hereditary hearing loss is highly heterogeneous. To keep up with rapidly emerging disease-causing genes, we developed the AUDIOME test for nonsyndromic hearing loss (NSHL) using an exome sequencing (ES) platform and targeted analysis for the curated genes.
Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management Genet. Med. (IF 8.229) Pub Date : 2018-03-29 Natalie Chandler, Sunayna Best, Jane Hayward, Francesca Faravelli, Sahar Mansour, Emma Kivuva, Dagmar Tapon, Alison Male, Catherine DeVile, Lyn S Chitty
Unexpected fetal abnormalities occur in 2–5% of pregnancies. While traditional cytogenetic and microarray approaches achieve diagnosis in around 40% of cases, lack of diagnosis in others impedes parental counseling, informed decision making, and pregnancy management. Postnatally exome sequencing yields high diagnostic rates, but relies on careful phenotyping to interpret genotype results. Here we used a multidisciplinary approach to explore the utility of rapid fetal exome sequencing for prenatal diagnosis using skeletal dysplasias as an exemplar.
FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts Genet. Med. (IF 8.229) Pub Date : 2018-03-29 Claudine M Kraan, Quang M Bui, Mike Field, Alison D Archibald, Sylvia A Metcalfe, Louise M Christie, Bruce H Bennetts, Ralph Oertel, Melanie J Smith, Desiree du Sart, Damien Bruno, Tiffany L Wotton, David J Amor, David Francis, David E Godler
Developmental delay phenotypes have been associated with FMR1 premutation (PM: 55–200 CGG repeats) and “gray zone” (GZ: 45–54 CGG repeats) alleles. However, these associations have not been confirmed by larger studies to be useful in pediatric diagnostic or screening settings.
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders Genet. Med. (IF 8.229) Pub Date : 2018-03-29 Lisa J Ewans, Deborah Schofield, Rupendra Shrestha, Ying Zhu, Velimir Gayevskiy, Kevin Ying, Corrina Walsh, Eric Lee, Edwin P Kirk, Alison Colley, Carolyn Ellaway, Anne Turner, David Mowat, Lisa Worgan, Mary-Louise Freckmann, Michelle Lipke, Rani Sachdev, David Miller, Michael Field, Marcel E Dinger, Michael F Buckley, Mark J Cowley, Tony Roscioli
Whole-exome sequencing (WES) has revolutionized Mendelian diagnostics, however, there is no consensus on the timing of data review in undiagnosed individuals and only preliminary data on the cost-effectiveness of this technology. We aimed to assess the utility of WES data reanalysis for diagnosis in Mendelian disorders and to analyze the cost-effectiveness of this technology compared with a traditional diagnostic pathway.
Genotype and phenotype correlation in von Hippel–Lindau disease based on alteration of the HIF-α binding site in VHL protein Genet. Med. (IF 8.229) Pub Date : 2018-03-29 Sheng-Jie Liu, Jiang-Yi Wang, Shuang-He Peng, Teng Li, Xiang-Hui Ning, Bao-An Hong, Jia-Yuan Liu, Peng-Jie Wu, Bo-Wen Zhou, Jing-Cheng Zhou, Nie-Nie Qi, Xiang Peng, Jiu-Feng Zhang, Kai-Fang Ma, Lin Cai, Kan Gong
Von Hippel–Lindau (VHL) disease is a rare hereditary cancer syndrome that reduces life expectancy. We aimed to construct a more valuable genotype–phenotype correlation based on alterations in VHL protein (pVHL).
Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing Genet. Med. (IF 8.229) Pub Date : 2018-03-22 Ahmed Alfares, Taghrid Aloraini, Lamia Al subaie, Abdulelah Alissa, Ahmed Al Qudsi, Ahmed Alahmad, Fuad Al Mutairi, Abdulrahman Alswaid, Ali Alothaim, Wafaa Eyaid, Mohammed Albalwi, Saeed Alturki, Majid Alfadhel
Whole-exome sequencing (WES) and whole-genome sequencing (WGS) are used to diagnose genetic and inherited disorders. However, few studies comparing the detection rates of WES and WGS in clinical settings have been performed.
False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care Genet. Med. (IF 8.229) Pub Date : 2018-03-22 Stephany Tandy-Connor, Jenna Guiltinan, Kate Krempely, Holly LaDuca, Patrick Reineke, Stephanie Gutierrez, Phillip Gray, Brigette Tippin Davis
There is increasing demand from the public for direct-to-consumer (DTC) genetic tests, and the US Food and Drug Administration limits the type of health-related claims DTC tests can market. Some DTC companies provide raw genotyping data to customers if requested, and these raw data may include variants occurring in genes recommended by the American College of Medical Genetics and Genomics to be reported as incidental/secondary findings. The purpose of this study was to review the outcome of requests for clinical confirmation of DTC results that were received by our laboratory and to analyze variant classification concordance.
Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study Genet. Med. (IF 8.229) Pub Date : 2018-03-22 Si Houn Hahn, David Kronn, Nancy D Leslie, Loren D M Pena, Pranoot Tanpaiboon, Michael J Gambello, James B Gibson, Richard Hillman, David W Stockton, John W Day, Raymond Y Wang, Kristina An Haack, Raheel Shafi, Susan Sparks, Yang Zhao, Catherine Wilson, Priya S Kishnani
Pompe disease results from lysosomal acid α-glucosidase (GAA) deficiency and its associated glycogen accumulation and muscle damage. Alglucosidase alfa (recombinant human GAA (rhGAA)) received approval in 2006 as a treatment for Pompe disease at the 160 L production scale. In 2010, larger-scale rhGAA was approved for patients up to 8 years old without cardiomyopathy. NCT01526785 evaluated 4,000 L rhGAA efficacy/safety in US infantile- or late-onset Pompe disease (IOPD, LOPD) patients up to 1 year old transitioned from 160 L rhGAA.
Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study Genet. Med. (IF 8.229) Pub Date : 2018-03-22 Fabio Girardi, Daniel R Barnes, Daniel Barrowdale, Debra Frost, Angela F Brady, Claire Miller, Alex Henderson, Alan Donaldson, Alex Murray, Carole Brewer, Caroline Pottinger, D Gareth Evans, Diana Eccles, EMBRACE, Fiona Lalloo, Helen Gregory, Jackie Cook, Jacqueline Eason, Julian Adlard, Julian Barwell, Kai Ren Ong, Lisa Walker, Louise Izatt, Lucy E Side, M John Kennedy, Marc Tischkowitz, Mark T Rogers, Mary E Porteous, Patrick J Morrison, Ros Eeles, Rosemarie Davidson, Katie Snape, Douglas F Easton, Antonis C Antoniou
BRCA1/BRCA2 predictive test negatives are proven noncarriers of a BRCA1/BRCA2 mutation that is carried by their relatives. The risk of developing breast cancer (BC) or epithelial ovarian cancer (EOC) in these women is uncertain. The study aimed to estimate risks of invasive BC and EOC in a large cohort of BRCA1/BRCA2 predictive test negatives.
Patterns of homozygosity in patients with uniparental disomy: detection rate and suggested reporting thresholds for SNP microarrays Genet. Med. (IF 8.229) Pub Date : 2018-03-22 Nicole Hoppman, Kandelaria Rumilla, Emily Lauer, Hutton Kearney, Erik Thorland
Single-nucleotide polymorphism (SNP) microarrays can easily identify whole-chromosome isodisomy but are unable to detect whole-chromosome heterodisomy. However, most cases of uniparental disomy (UPD) involve combinations of heterodisomy and isodisomy, visualized on SNP microarrays as long continuous stretches of homozygosity (LCSH). LCSH raise suspicion for, but are not diagnostic of, UPD, and reporting necessitates confirmatory testing. The goal of this study was to define optimal LCSH reporting standards.
Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial Genet. Med. (IF 8.229) Pub Date : 2018-03-22 Kurt D Christensen, Jason L Vassy, Kathryn A Phillips, Carrie L Blout, Danielle R Azzariti, Christine Y Lu, Jill O Robinson, Kaitlyn Lee, Michael P Douglas, Jennifer M Yeh, Kalotina Machini, Natasha K Stout, Heidi L Rehm, Amy L McGuire, Robert C Green, Dmitry Dukhovny
Great uncertainty exists about the costs associated with whole-genome sequencing (WGS).
Is prenatal genomic testing ready for prime time? Genet. Med. (IF 8.229) Pub Date : 2018-03-22 Margaret P Adam
Is prenatal genomic testing ready for prime time? Is prenatal genomic testing ready for prime time?, Published online: 22 March 2018; doi:10.1038/gim.2018.5 Is prenatal genomic testing ready for prime time?
Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis Genet. Med. (IF 8.229) Pub Date : 2018-03-22 Zöe Powis, Kelly D Farwell Hagman, Virginia Speare, Taylor Cain, Kirsten Blanco, Layla S Mowlavi, Emily M Mayerhofer, David Tilstra, Timothy Vedder, Jesse M Hunter, Marilyn Tsang, Lina Gonzalez, Gerald Vockley, Sha Tang
Neonatal patients are particularly appropriate for utilization of diagnostic exome sequencing (DES), as many Mendelian diseases are known to present in this period of life but often with complex, heterogeneous features. We attempted to determine the diagnostic rates and features of neonatal patients undergoing DES.
Pediatric clinical exome/genome sequencing and the engagement process: encouraging active conversation with the older child and adolescent: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG) Genet. Med. (IF 8.229) Pub Date : 2018-03-22 Lynn W Bush, Louis E Bartoshesky, Karen L David, Benjamin Wilfond, Janet L Williams, Ingrid A Holm
Disclaimer: This article is designed primarily as an educational resource for medical geneticists and other health care providers to help them provide quality patient care. Adherence to the information contained in this article does not necessarily assure a successful medical outcome. This information and any associated recommendations should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, each provider should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient. It may be prudent, however, to document in the patient’s record the rationale for any significant deviation from the recommendations set forth in this article. This article is copyrighted and is property of the American College of Medical Genetics. All authors have filed conflict of interest statements with the American College of Medical Genetics. Any conflicts have been resolved through a process approved by the Board of Directors. The American College of Medical Genetics has neither solicited nor accepted any commercial involvement in the development of the content of this publication.
Meeting the challenges of implementing rapid genomic testing in acute pediatric care Genet. Med. (IF 8.229) Pub Date : 2018-03-15 Zornitza Stark, Sebastian Lunke, Gemma R Brett, Natalie B Tan, Rachel Stapleton, Smitha Kumble, Alison Yeung, Dean G Phelan, Belinda Chong, Miriam Fanjul-Fernandez, Justine E Marum, Matthew Hunter, Anna Jarmolowicz, Yael Prawer, Jessica R Riseley, Matthew Regan, Justine Elliott, Melissa Martyn, Stephanie Best, Tiong Y Tan, Clara L Gaff, Susan M White
The purpose of the study was to implement and prospectively evaluate the outcomes of a rapid genomic diagnosis program at two pediatric tertiary centers.
Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta Genet. Med. (IF 8.229) Pub Date : 2018-03-15 Ruwan Weerakkody, David Ross, David A Parry, Bulat Ziganshin, Jana Vandrovcova, Piyush Gampawar, Abdulshakur Abdullah, Jennifer Biggs, Julia Dumfarth, Yousef Ibrahim, Yale Aortic Institute Data and Repository Team, Colin Bicknell, Mark Field, John Elefteriades, Nick Cheshire, Timothy J Aitman
Thoracic aortic aneurysm/aortic dissection (TAAD) is a disorder with highly variable age of onset and phenotype. We sought to determine the prevalence of pathogenic variants in TAAD-associated genes in a mixed cohort of sporadic and familial TAAD patients and identify relevant genotype–phenotype relationships.
Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis Genet. Med. (IF 8.229) Pub Date : 2018-03-15 Hiroki Maruyama, Kaori Miyata, Mariko Mikame, Atsumi Taguchi, Chu Guili, Masaru Shimura, Kei Murayama, Takeshi Inoue, Saori Yamamoto, Koichiro Sugimura, Koichi Tamita, Toshihiro Kawasaki, Jun Kajihara, Akifumi Onishi, Hitoshi Sugiyama, Teiko Sakai, Ichijiro Murata, Takamasa Oda, Shigeru Toyoda, Kenichiro Hanawa, Takeo Fujimura, Shigehisa Ura, Mimiko Matsumura, Hideki Takano, Satoshi Yamashita, Gaku Matsukura, Ryushi Tazawa, Tsuyoshi Shiga, Mio Ebato, Hiroshi Satoh, Satoshi Ishii
Plasma globotriaosylsphingosine (lyso-Gb3) is a promising secondary screening biomarker for Fabry disease. Here, we examined its applicability as a primary screening biomarker for classic and late-onset Fabry disease in males and females.
The ACMG/AMP reputable source criteria for the interpretation of sequence variants Genet. Med. (IF 8.229) Pub Date : 2018-03-15 Leslie G Biesecker, Steven M Harrison
The ACMG/AMP reputable source criteria for the interpretation of sequence variants The ACMG/AMP reputable source criteria for the interpretation of sequence variants, Published online: 15 March 2018; doi:10.1038/gim.2018.42 The ACMG/AMP reputable source criteria for the interpretation of sequence variants
A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb–polysyndactyly syndrome Genet. Med. (IF 8.229) Pub Date : 2018-03-15 Jacob W P Potuijt, Martijn Baas, Rivka Sukenik-Halevy, Hannie Douben, Picard Nguyen, Deon J Venter, Renée Gallagher, Sigrid M Swagemakers, Steven E R Hovius, Christianne A van Nieuwenhoven, Robert-Jan H Galjaard, Peter J van der Spek, Nadav Ahituv, Annelies de Klein
The zone of polarizing activity regulatory sequence (ZRS) is an enhancer that regulates sonic hedgehog during embryonic limb development. Recently, mutations in a noncoding evolutionary conserved sequence 500 bp upstream of the ZRS, termed the pre-ZRS (pZRS), have been associated with polydactyly in dogs and humans. Here, we report the first case of triphalangeal thumb–polysyndactyly syndrome (TPT-PS) to be associated with mutations in this region and show via mouse enhancer assays how this mutation leads to ectopic expression throughout the developing limb bud.
Response to Biesecker and Harrison Genet. Med. (IF 8.229) Pub Date : 2018-03-15 C Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L Rehm
Response to Biesecker and Harrison Response to Biesecker and Harrison, Published online: 15 March 2018; doi:10.1038/gim.2018.43 Response to Biesecker and Harrison
Congenital heart disease and aortic arch variants associated with mutation in PHOX2B Genet. Med. (IF 8.229) Pub Date : 2018-03-15 Rachel C Lombardo, Aleksey Porollo, James F Cnota, Robert J Hopkin
Congenital central hypoventilation syndrome (CCHS, OMIM 209880) is a rare autosomal dominant disorder caused by mutation in PHOX2B that manifests as a consequence of abnormal neural crest cell migration during embryogenesis. Unlike other neurocristopathies, however, its impact on the cardiovascular system has not been previously assessed. This study was an effort to characterize the association between congenital heart disease (CHD) and mutations in PHOX2B in patients with CCHS.
Laboratory analysis of organic acids, 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG) Genet. Med. (IF 8.229) Pub Date : 2018-03-15 Renata C Gallagher, Laura Pollard, Anna I Scott, Suzette Huguenin, Stephen Goodman, Qin Sun
Disclaimer: These ACMG Standards are intended as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these Standards is voluntary and does not necessarily assure a successful medical outcome. These Standards should not be considered inclusive of all proper procedures and tests, or exclusive of others that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, clinical laboratory geneticists should apply their professional judgment to the specific circumstances presented by the patient or specimen. Clinical laboratory geneticists are encouraged to document in the patient’s record the rationale for the use of a particular procedure or test, whether or not it is in conformance with these Standards. They also are advised to take notice of the date any particular standard was adopted, and to consider other relevant medical and scientific information that becomes available after that date. It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other procedures.
Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy Genet. Med. (IF 8.229) Pub Date : 2018-03-08 Johanna C Herkert, Kristin M Abbott, Erwin Birnie, Martine T Meems-Veldhuis, Ludolf G Boven, Marloes Benjamins, Gideon J du Marchie Sarvaas, Daniela Q C M Barge-Schaapveld, J Peter van Tintelen, Paul A van der Zwaag, Yvonne J Vos, Richard J Sinke, Maarten P van den Berg, Irene M van Langen, Jan D H Jongbloed
We evaluated the diagnostic yield in pediatric dilated cardiomyopathy (DCM) of combining exome sequencing (ES)-based targeted analysis and genome-wide copy-number variation (CNV) analysis. Based on our findings, we retrospectively designed an effective approach for genetic testing in pediatric DCM.
Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison Genet. Med. (IF 8.229) Pub Date : 2018-03-08 Julie B Eisengart, Kyle D Rudser, Yong Xue, Paul Orchard, Weston Miller, Troy Lund, Ans Van der Ploeg, Jean Mercer, Simon Jones, Karl Eugen Mengel, Seyfullah Gökce, Nathalie Guffon, Roberto Giugliani, Carolina F M de Souza, Elsa G Shapiro, Chester B Whitley
Early treatment is critical for mucopolysaccharidosis type I (MPS I), justifying its incorporation into newborn screening. Enzyme replacement therapy (ERT) treats MPS I, yet presumptions that ERT cannot penetrate the blood–brain barrier (BBB) support recommendations that hematopoietic cell transplantation (HCT) treat the severe, neurodegenerative form (Hurler syndrome). Ethics precludes randomized comparison of ERT with HCT, but insight into this comparison is presented with an international cohort of patients with Hurler syndrome who received long-term ERT from a young age.
Prenatal upper-limb mesomelia and 2q31.1 microdeletions affecting the regulatory genome Genet. Med. (IF 8.229) Pub Date : 2018-03-08 Angela Peron, Simona Boito, Tommaso Rizzuti, Irene Borzani, Marco Baccarin, Maria Francesca Bedeschi, Faustina Lalatta
Prenatal upper-limb mesomelia and 2q31.1 microdeletions affecting the regulatory genome Prenatal upper-limb mesomelia and 2q31.1 microdeletions affecting the regulatory genome, Published online: 08 March 2018; doi:10.1038/gim.2018.19 Prenatal upper-limb mesomelia and 2q31.1 microdeletions affecting the regulatory genome
“Well, good luck with that”: reactions to learning of increased genetic risk for Alzheimer disease Genet. Med. (IF 8.229) Pub Date : 2018-03-08 Doris T Zallen
Apolipoprotein-E (APOE) genetic testing to estimate risk for developing late-onset Alzheimer disease is increasingly being offered without prior genetic counseling or preparation. Consumer interest continues to grow, raising the question of how best to conduct such testing.
Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease Genet. Med. (IF 8.229) Pub Date : 2018-03-08 Veronika Boczonadi, Martin S King, Anthony C Smith, Monika Olahova, Boglarka Bansagi, Andreas Roos, Filmon Eyassu, Christoph Borchers, Venkateswaran Ramesh, Hanns Lochmüller, Tuomo Polvikoski, Roger G Whittaker, Angela Pyle, Helen Griffin, Robert W Taylor, Patrick F Chinnery, Alan J Robinson, Edmund R S Kunji, Rita Horvath
To understand the role of the mitochondrial oxodicarboxylate carrier (SLC25A21) in the development of spinal muscular atrophy-like disease.
Do RET somatic mutations play a role in Hirschsprung disease? Genet. Med. (IF 8.229) Pub Date : 2018-03-01 Erwin Brosens, Katherine C MacKenzie, Maria M Alves, Robert M W Hofstra
Do RET somatic mutations play a role in Hirschsprung disease? Do RET somatic mutations play a role in Hirschsprung disease?, Published online: 01 March 2018; doi:10.1038/gim.2018.6 Do RET somatic mutations play a role in Hirschsprung disease?
Tell me once, tell me soon: parents’ preferences for clinical genetics services for congenital heart disease Genet. Med. (IF 8.229) Pub Date : 2018-03-01 Nadine A Kasparian, Richard De Abreu Lourenco, David S Winlaw, Gary F Sholler, Rosalie Viney, Edwin P E Kirk
As the molecular basis of congenital heart disease (CHD) comes into sharper focus, cardiac genetics services are likely to play an increasingly important role. This study aimed to identify parents’ preferences for, and willingness to participate in, clinical genetics services for CHD.
Some contents have been Reproduced by permission of The Royal Society of Chemistry.
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