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Journals
Genetics in Medicine : Officia...
Genetics in Medicine : Official Journal of the American College of Medical Genetics
#1
REVIEW
Francisco Santos Gonzalez, Dylan Mordaunt, Zornitza Stark, Kim Dalziel, John Christodoulou, Ilias Goranitis
PURPOSE: Micro-costing can provide valuable economic evidence to inform the translation of genomic sequencing to clinical practice. A systematic literature review was conducted to identify studies employing micro-costing methods to estimate the cost of genomic sequencing to diagnose cancer and rare diseases. METHODS: Four electronic databases, MEDLINE, Embase, Econlit and CINAHL were searched. Reference lists of identified studies were also searched. Studies were included if they had estimated the cost of genome (GS) or exome sequencing (ES) for cancer or rare disease diagnosis using micro-costing methods...
March 16, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#2
JOURNAL ARTICLE
Linyan Meng, Ruben Attali, Tomer Talmy, Yakir Regev, Niv Mizrahi, Pola Smirin-Yosef, Liesbeth Vossaert, Christian Taborda, Michael Santana, Ido Machol, Rui Xiao, Hongzheng Dai, Christine Eng, Fan Xia, Shay Tzur
PURPOSE: The analysis of exome and genome sequencing data for the diagnosis of rare diseases is challenging and time-consuming. In this study, we evaluated a machine learning model for automating variant prioritization for diagnosing rare genetic diseases in the Baylor Genetics clinical laboratory. METHODS: The automated analysis model was developed using a supervised learning approach based on thousands of manually curated variants. The model was evaluated on two cohorts...
March 16, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#3
JOURNAL ARTICLE
Jennifer D Brooks, Ashley Mah, Rebecca A G Christensen, Jasleen Arneja, Andrea Eisen, Anna M Chiarelli
PURPOSE: Women with a remaining lifetime risk of breast cancer ≥25%, estimated using the International Breast Cancer Intervention Study (IBIS) model, are eligible for the High Risk Ontario Breast Screening Program (OBSP). This study examined the performance of IBIS 10-year risk estimates in the Program. METHODS: This retrospective study included 7487 women aged 30-69 years referred to the High Risk OBSP between July 1, 2011, and December 31, 2016, with follow-up until December 31, 2018...
March 12, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#4
JOURNAL ARTICLE
Chloe Mighton, Marc Clausen, Salma Shickh, Nancy N Baxter, Adena Scheer, Agnes Sebastian, Sarah M Muir, Theresa H M Kim, Emily Glogowski, Kasmintan A Schrader, Dean A Regier, Raymond H Kim, Jordan Lerner-Ellis, Ahmed M Bayoumi, Kevin E Thorpe, Yvonne Bombard
PURPOSE: Genomic sequencing can generate complex results, including variants of uncertain significance (VUSs). In general, VUSs should not inform clinical decision-making. This study aimed to assess participants' expected management of VUSs. METHODS: An online, hypothetical survey was conducted among members of the Canadian public, preceded by an educational video. Participants were randomized to one of two arms, VUS or pathogenic variant in a colorectal cancer gene, and asked which types of health services they expected to use for this result...
March 12, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#5
Aya Abu-El-Haija, Honey V Reddi, Hannah Wand, Nancy C Rose, Mari Mori, Emily Qian, Michael F Murray
No abstract text is available yet for this article.
March 10, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#6
Felix Boschann, Muhsin Ö Cogulu, Davut Pehlivan, Saranya Balachandran, Pedro Vallecillo-Garcia, Christopher M Grochowski, Nils R Hansmeier, Zeynep H Coban Akdemir, Cesar A Prada-Medina, Ayca Aykut, Björn Fischer-Zirnsak, Simon Badura, Burak Durmaz, Ferda Ozkinay, René Hägerling, Jennifer E Posey, Sigmar Stricker, Gabriele Gillessen-Kaesbach, Malte Spielmann, Denise Horn, Knut Brockmann, James R Lupski, Uwe Kornak, Julia Schmidt
No abstract text is available yet for this article.
February 28, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#7
JOURNAL ARTICLE
Julie Stefka, Haley Streff, Pengfei Liu, Meghan Towne, Hadley Stevens Smith
PURPOSE: Cascade testing, the process of testing a proband's at-risk relatives, is integral to realizing the full value of genomic sequencing. However, there is little empirical evidence on the uptake of cascade testing after positive exome sequencing (ES) in a population of probands with diverse clinical indications. METHODS: We retrospectively reviewed administrative data from two US clinical laboratories that perform ES. For each proband with a positive ES result, we used linked family data to describe the frequency of relatives' cascade testing performed at the same laboratory, variant detection yield of cascade tests, and characteristics of probands and relatives categorized based on cascade testing completion...
February 24, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#8
Joshua L Deignan, Mauricio De Castro, Vanessa L Horner, Tami Johnston, Daniela Macaya, Joseph J Maleszewski, Honey V Reddi, Marwan K Tayeh
No abstract text is available yet for this article.
February 16, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#9
JOURNAL ARTICLE
Deborah Schofield, Evelyn Lee, Jayamala Parmar, Simon Kelly, Matthew Hobbs, Nigel Laing, Jan Mumford
PURPOSE: To evaluate the cost-effectiveness of population-based expanded reproductive carrier screening (RCS) for a 300 recessive genes panel from health service and societal perspectives. METHODS: A microsimulation model (PreConMod) was developed using 2016 Australian Census data as the base population. Epidemiological, health and indirect cost data were based on literature review. The study assessed the incremental-cost-effectiveness-ratio (ICER) of expanded RCS compared with (i) no population screening (ii) three-condition screening for cystic fibrosis, spinal muscular atrophy, and fragile X syndrome in a single birth cohort...
February 12, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#10
JOURNAL ARTICLE
Hila Milo Rasouly, Olivia Balderes, Maddalena Marasa, Hilda Fernandez, Marissa Lipton, Fangming Lin, Ali G Gharavi, Maya Sabatello
PURPOSE: The success of genomic medicine hinges on implementation of genetic knowledge in clinical settings. In novel subspecialties, it requires that clinicians refer patients to genetic evaluation or testing, but referral is likely to be impacted by genetic knowledge. METHODS: An online survey was administered to self-identified nephrologists working in the U.S.. Nephrologists' demographic characteristics, genetic education, confidence in clinical genetics, genetic knowledge, and referral rates of patients to genetic evaluation were collected...
February 12, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#11
JOURNAL ARTICLE
Catharine Wang, Haibo Lu, Deborah J Bowen, Ziming Xuan
PURPOSE: National efforts have prioritized the identification of effective methods for increasing case ascertainment and delivery of evidence-based health care for individuals at elevated risk for hereditary cancers. METHODS: This study examined the uptake of genetic counseling and testing following the use of a digital cancer genetic risk assessment program implemented at 27 health care sites in 10 states using 1 of 4 clinical workflows: (1) traditional referral, (2) point-of-care scheduling, (3) point-of-care counseling/telegenetics, and (4) point-of-care testing...
February 11, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#12
EDITORIAL
Paul S Appelbaum, Sara M Berger, Elly Brokamp, H Shelton Brown, Wylie Burke, Ellen Wright Clayton, Barbara J Evans, Rizwan Hamid, Gary E Marchant, Donna M Martin, Bridget C O'Connor, José A Pagán, Erik Parens, Jessica L Roberts, John Rowe, John Schneider, Karolynn Siegel, David L Veenstra, Wendy K Chung
With the growing use of genetic testing in medicine, the question of when genetic findings should be reinterpreted in light of new data has become inescapable. The generation of population and disease-specific data, development of computational tools, and new understandings of the relationship of specific genes to disorders can all trigger changes in variant classification that may have important implications for patients and the clinicians caring for them. This is a particular concern for patients from groups underrepresented in current reference datasets, since they have higher rates of uncertain findings...
February 4, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#13
JOURNAL ARTICLE
Benjamin J Kerman, Charles A Brunette, Elizabeth J Harris, Ashley A Antwi, Amy A Lemke, Jason L Vassy
PURPOSE: The use of patient race in medicine is controversial for its potential either to exacerbate or address health disparities. Polygenic risk scores (PRS) have emerged as a tool for risk stratification models used in preventive medicine. We examined whether PRS results impact primary care physician (PCP) medical decision-making and whether that impact varies by patient race. METHODS: Using an online survey with a randomized experimental design among PCPs in a national database, we ascertained decision-making around atherosclerotic cardiovascular disease prevention and prostate cancer screening for case scenario patients who were clinically identical except for randomized reported race...
February 4, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#14
REVIEW
Sólveig Óskarsdóttir, Erik Boot, Terrence Blaine Crowley, Joanne C Y Loo, Jill M Arganbright, Marco Armando, Adriane L Baylis, Elemi J Breetvelt, René M Castelein, Madeline Chadehumbe, Christopher M Cielo, Steven de Reuver, Stephan Eliez, Ania M Fiksinski, Brian J Forbes, Emily Gallagher, Sarah E Hopkins, Oksana A Jackson, Lorraine Levitz-Katz, Gunilla Klingberg, Michele P Lambert, Bruno Marino, Maria R Mascarenhas, Julie Moldenhauer, Edward M Moss, Beata Anna Nowakowska, Ani Orchanian-Cheff, Carolina Putotto, Gabriela M Repetto, Erica Schindewolf, Maude Schneider, Cynthia B Solot, Kathleen E Sullivan, Ann Swillen, Marta Unolt, Jason P Van Batavia, Claudia Vingerhoets, Jacob Vorstman, Anne S Bassett, Donna M McDonald-McGinn
This review aimed to update the clinical practice guidelines for managing children and adolescents with 22q11.2 deletion syndrome (22q11.2DS). The 22q11.2 Society, the international scientific organization studying chromosome 22q11.2 differences and related conditions, recruited expert clinicians worldwide to revise the original 2011 pediatric clinical practice guidelines in a stepwise process: (1) a systematic literature search (1992-2021), (2) study selection and data extraction by clinical experts from 9 different countries, covering 24 subspecialties, and (3) creation of a draft consensus document based on the literature and expert opinion, which was further shaped by survey results from family support organizations regarding perceived needs...
January 31, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#15
REVIEW
Erik Boot, Sólveig Óskarsdóttir, Joanne C Y Loo, Terrence Blaine Crowley, Ani Orchanian-Cheff, Danielle M Andrade, Jill M Arganbright, René M Castelein, Christine Cserti-Gazdewich, Steven de Reuver, Ania M Fiksinski, Gunilla Klingberg, Anthony E Lang, Maria R Mascarenhas, Edward M Moss, Beata Anna Nowakowska, Erwin Oechslin, Lisa Palmer, Gabriela M Repetto, Nikolai Gil D Reyes, Maude Schneider, Candice Silversides, Kathleen E Sullivan, Ann Swillen, Therese A M J van Amelsvoort, Jason P Van Batavia, Claudia Vingerhoets, Donna M McDonald-McGinn, Anne S Bassett
This review aimed to update the clinical practice guidelines for managing adults with 22q11.2 deletion syndrome (22q11.2DS). The 22q11.2 Society recruited expert clinicians worldwide to revise the original clinical practice guidelines for adults in a stepwise process according to best practices: (1) a systematic literature search (1992-2021), (2) study selection and synthesis by clinical experts from 8 countries, covering 24 subspecialties, and (3) formulation of consensus recommendations based on the literature and further shaped by patient advocate survey results...
January 31, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#16
JOURNAL ARTICLE
Rim Hjeij, Isabella Aprea, Marco Poeta, Tabea Nöthe-Menchen, Diana Bracht, Johanna Raidt, Barbara I Honecker, Gerard W Dougherty, Heike Olbrich, Oliver Schwartz, Ulrike Keller, Harald Nüsse, Karin E M Diderich, Christian Vogelberg, Francesca Santamaria, Heymut Omran
PURPOSE: Primary ciliary dyskinesia (PCD) is a heterogeneous disorder including respiratory symptoms, laterality defects and infertility caused by dysfunction of motile cilia. Most PCD-causing variants result in abnormal outer dynein arms (ODAs), which provide the generative force for respiratory ciliary beating and proper mucociliary clearance. METHODS: In addition to studies in mouse and planaria, clinical, exome sequencing and functional analyses in human were performed...
January 30, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#17
JOURNAL ARTICLE
Kurt D Christensen, Pamela M McMahon, Lauren N Galbraith, Jennifer M Yeh, Natasha K Stout, Christine Y Lu, Sarah Stein, Maryann Zhao, Robyn J Hylind, Ann Chen Wu
PURPOSE: Population newborn genetic screening for hypertrophic cardiomyopathy (HCM) is feasible, but its benefits, harms, and cost effectiveness are uncertain. METHODS: We developed a microsimulation model to simulate a United States birth cohort of 3.7 million newborns. Those identified with pathogenic/likely pathogenic variants associated with increased risk of HCM underwent surveillance and recommended treatment, compared to usual care, which included surveillance for individuals with family histories of HCM...
January 30, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#18
JOURNAL ARTICLE
Tricia N Zion, Courtney D Berrios, Ana S A Cohen, Lauren Bartik, Laura A Cross, Kendra L Engleman, Emily A Fleming, Randi N Gadea, Susan S Hughes, Janda L Jenkins, Jennifer Kussmann, Caitlin Lawson, Caitlin Schwager, Meghan E Strenk, Holly Welsh, Eric T Rush, Shivarajan M Amudhavalli, Bonnie R Sullivan, Dihong Zhou, Jennifer L Gannon, Bryce A Heese, Riley Moore, Emelia Boillat, Rebecca L Biswell, Daniel A Louiselle, Laura M B Puckett, Shanna Beyer, Shelby H Neal, Victoria Sierant, Macy McBeth, Bradley Belden, Adam M Walter, Margaret Gibson, Warren A Cheung, Jeffrey J Johnston, Isabelle Thiffault, Emily G Farrow, Elin Grundberg, Tomi Pastinen
PURPOSE: This study aimed to assess the amount and types of clinical genetic testing denied by insurance and the rate of diagnostic and candidate genetic findings identified through research in patients who faced insurance denials METHODS: Analysis consisted of review of insurance denials in 801 patients enrolled in a pediatric genomic research repository with either no previous genetic testing or previous negative genetic testing by cross-referencing with insurance prior-authorizations in patient medical records...
January 27, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#19
JOURNAL ARTICLE
Loryn Byres, Emily Morris, Jehannine Austin
PURPOSE: To investigate the perspectives of Autistic adults regarding genetic testing for autism. Though previous studies have explored the perceptions of genetic testing for autism among a variety of different stakeholders, to our knowledge none have explored the perceptions of Autistic adults. METHODS: We distributed a web-based survey via social media to English-speaking Autistic adults. The survey assessed individuals' experiences with, attitudes towards, and interest in genetic testing for autism, and their perceptions of its potential benefits and harms...
January 19, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#20
JOURNAL ARTICLE
Anne-Sophie Denommé-Pichon, Leslie Matalonga, Elke de Boer, Adam Jackson, Elisa Benetti, Siddharth Banka, Ange-Line Bruel, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, Yannis Duffourd, Kornelia Ellwanger, Chiara Fallerini, Christian Gilissen, Holm Graessner, Tobias B Haack, Marketa Havlovicova, Alexander Hoischen, Nolwenn Jean-Marçais, Tjitske Kleefstra, Estrella López-Martín, Milan Macek, Maria Antonietta Mencarelli, Sébastien Moutton, Rolph Pfundt, Simone Pizzi, Manuel Posada, Francesca Clementina Radio, Alessandra Renieri, Caroline Rooryck, Lukas Ryba, Hana Safraou, Martin Schwarz, Marco Tartaglia, Christel Thauvin-Robinet, Julien Thevenon, Frédéric Tran Mau-Them, Aurélien Trimouille, Pavel Votypka, Bert B A de Vries, Marjolein H Willemsen, Birte Zurek, Alain Verloes, Christophe Philippe, Antonio Vitobello, Lisenka E L M Vissers, Laurence Faivre
PURPOSE: Within the Solve-RD project (https://solve-rd.eu/), the ERN-ITHACA (European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies) aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the "ClinVar low-hanging fruit" reanalysis, reasons for the failure of previous analyses and lessons learned. METHODS: Data from the first 3,576 exomes (1,522 probands and 2,054 relatives) collected from ERN-ITHACA was reanalyzed by the Solve-RD consortium by evaluating for the presence of SNV/indel already reported as (likely) pathogenic in ClinVar...
January 19, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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