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Journals Genetics in Medicine : Officia...

Genetics in Medicine : Official Journal of the American College of Medical Genetics

https://read.qxmd.com/read/38856723/correspondence-on-clinical-utility-of-polygenic-risk-scores-for-embryo-selection-a-points-to-consider-statement-of-the-american-college-of-medical-genetics-and-genomics-acmg-by-grebe-et%C3%A2-al
#1
LETTER
Erik Widen, Louis Lello, Jennifer Eccles, Diego Marin, Nathan R Treff
No abstract text is available yet for this article.
June 6, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/38856722/response-to-widen-et%C3%A2-al
#2
LETTER
Theresa A Grebe, George Khushf, John M Greally, Patrick Turley, Nastaran Foyouzi, Sara Rabin-Havt, Benjamin Berkman, Kathleen Pope, Matteo Vatta, Shagun Kaur
No abstract text is available yet for this article.
June 6, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/38855852/-it-s-hard-to-wait-provider-perspectives-on-current-genomic-care-in-safety-net-nicus
#3
JOURNAL ARTICLE
Alissa M D'Gama, Monica H Wojcik, Sonia Hills, Jessica Douglas, Timothy W Yu, Pankaj B Agrawal, Margaret G Parker
PURPOSE: Critically ill infants from marginalized populations disproportionately receive care in neonatal intensive care units (NICUs) that lack access to state-of-the-art genomic care, leading to inequitable outcomes. We sought provider perspectives to inform our implementation study (VIGOR) providing rapid genomic sequencing within these settings. METHODS: We conducted semi-structured focus groups with neonatal and genetics providers at five NICUs at safety-net hospitals, informed by the Promoting Action on Research Implementation in Health Services framework, which incorporates evidence, context, and facilitation domains...
June 6, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/38850131/analysis-of-financial-barriers-experienced-by-prospective-genetic-counseling-students
#4
JOURNAL ARTICLE
D Lee, J Platt, P Flodman, K E Singh, F Quintero-Rivera
PURPOSE: High costs of applying to genetic counseling graduate programs (GCGPs) are likely a barrier to workforce diversification. We sought to determine application costs and assess differences between individuals of historically underrepresented racial and ethnic backgrounds in medicine (hURM) and non-hURM applicants. METHODS: Applicants to GCGPs between 2005-2020 were surveyed about application history, related expenses, volunteer hours, and financial resources; 383 responses were analyzed...
June 4, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/38847193/dominant-missense-variants-in-srebf2-are-associated-with-complex-dermatological-neurological-and-skeletal-abnormalities
#5
JOURNAL ARTICLE
Matthew J Moulton, Kristhen Atala, Yiming Zheng, Debdeep Dutta, Dorothy K Grange, Wen-Wen Lin, Daniel J Wegner, Jennifer A Wambach, Angela L Duker, Michael B Bober, Lisa Kratz, Carol A Wise, Ila Oxendine, Anas Khanshour, F Sessions Cole, Jonathan Rios, Hugo J Bellen
PURPOSE: We identified two individuals with de novo variants in SREBF2 that disrupt a conserved site 1 protease (S1P) cleavage motif required for processing SREBP2 into its mature transcription factor. These individuals exhibit complex phenotypic manifestations that partially overlap with SREBP pathway-related disease phenotypes, but SREBF2-related disease has not been previously reported. Thus, we set out to assess the effects of SREBF2 variants on SREBP pathway activation. METHODS: We undertook ultrastructure and gene expression analyses using fibroblasts from an affected individual and utilized a fly model of lipid droplet formation to investigate the consequences of SREBF2 variants on SREBP pathway function...
June 3, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/38847192/breast-cancer-after-ovarian-cancer-in-brca1-and-brca2-pathogenic-variant-heterozygotes-lower-rates-for-5-years-post-chemotherapy
#6
JOURNAL ARTICLE
D Gareth Evans, Robert D Morgan, Emma J Crosbie, Sacha J Howell, Claire Forde, Anthony Howell, Fiona Lalloo, Emma R Woodward
BACKGROUND: The identification of germline BRCA1/BRCA2 pathogenic variants (PV) infer high remaining lifetime breast/ovarian cancer risks, but there is paucity of studies assessing breast cancer risk after ovarian cancer diagnosis. METHODS: We reviewed the history of breast cancer in 895 PV heterozygotes (BRCA1=541). Cumulative annual breast cancer incidence was assessed at 2,5,10 and >10 years following ovarian cancer diagnosis date. RESULTS: Breast cancer annual rates were evaluated in 701 assessable women with no breast cancer at ovarian diagnosis (BRCA1=425)...
June 3, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/38836869/myotonic-dystrophy-type-1-testing-2024-revision-a%C3%A2-technical-standard-of-the-american-college-of-medical-genetics-and-genomics-acmg
#7
JOURNAL ARTICLE
Bryce A Seifert, Honey V Reddi, Benjamin E Kang, Lora J H Bean, Amy Shealy, Nancy C Rose
Myotonic dystrophy type 1 (DM1) is a form of muscular dystrophy causing progressive muscle loss and weakness. Although clinical features can manifest at any age, it is the most common form of muscular dystrophy with onset in adulthood. DM1 is an autosomal dominant condition, resulting from an unstable CTG expansion in the 3'-untranslated region of the myotonic dystrophy protein kinase (DMPK) gene. The age of onset and the severity of the phenotype are roughly correlated with the size of the CTG expansion. Multiple methodologies can be used to diagnose affected individuals with DM1, including polymerase chain reaction, Southern blot, and triplet repeat-primed polymerase chain reaction...
June 3, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/38832564/satisfaction-with-mode-of-delivery-of-genomic-sequencing-results-in-a-diverse-national-sample-of-research-participants-through-the-clinical-sequencing-evidence-generating-research-consortium
#8
JOURNAL ARTICLE
Sarah Scollon, Jill O Robinson, Eunji Jo, Sabrina A Suckiel, Laura M Amendola, Ann Katherine M Foreman, Gail P Jarvik, Christine Rini, Tao Wang, Anne Slavotinek
PURPOSE: Research that includes diverse patient populations is necessary to optimize implementation of telehealth. METHODS: As part of a Clinical Sequencing Evidence-Generating Research Consortium cross-site study, we assessed satisfaction with mode of return of results (RoR) delivery across a diverse sample of participants receiving genetic testing results in-person (IP) versus telemedicine (TM) RESULTS: Ninety-eight percent of participants were satisfied with their mode of results delivery...
June 1, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/38828701/cancer-risks-for-other-sites-in-addition-to-breast-in-chek2-c-1100delc-families
#9
JOURNAL ARTICLE
Maartje A C Schreurs, Marjanka K Schmidt, Antoinette Hollestelle, Michael Schaapveld, Christi J van Asperen, Margreet G E M Ausems, Irma van de Beek, Marjoleine F Broekema, J Margriet Collée, Annemieke H van der Hout, Kim J A F van Kaam, Fenne L Komdeur, Arjen R Mensenkamp, Muriel A Adank, Maartje Hooning
PURPOSE: Female CHEK2 c.1100delC heterozygotes are eligible for additional breast surveillance due to an increased breast cancer risk. Increased risks for other cancers have been reported. We studied whether CHEK2 c.1100delC is associated with an increased risk for other cancers within these families. METHODS: Including 10,780 individuals from 609 families, we calculated standardized incidence rates (SIRs) and absolute excess risk (AER, per 10.000 person years) by comparing first-reported cancer derived from the pedigrees with general Dutch population rates from 1970 onwards...
May 31, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/38828700/where-there-is-no-genetic-counselor-an-online-decision-aid-supports-the-majority-of-parents-diagnostic-genomic-testing-choices-for-their-children
#10
JOURNAL ARTICLE
Patricia Birch, Rhea Beauchesne, Nick Bansback, Cyrus Boelman, Mary Connolly, Michelle Demos, Jan M Friedman, Simone Race, Sylvia Stockler, Alison M Elliott, Shelin Adam
PURPOSE: We evaluated DECIDE, an online pre-test decision-support tool for diagnostic genomic testing, in non-genetics specialty clinics where there are no genetic counselors (GCs). METHODS: Families of children offered genomic testing were eligible to participate. Fifty-six parents/guardians completed DECIDE at home, at their convenience. DECIDE includes an integrated knowledge quiz and decisional conflict screen. Six months later, parents were offered follow-up questionnaires and interviews about their experiences...
May 30, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/38819344/consideration-of-disease-penetrance-in-the-selection-of-secondary-findings-gene-disease-pairs-a-policy-statement-of-the-american-college-of-medical-genetics-and-genomics-acmg
#11
Adam S Gordon, Kristy Lee, Noura S Abul-Husn, Laura M Amendola, Kyle Brothers, Wendy K Chung, Michael H Gollob, Steven M Harrison, Ray E Hershberger, C Sue Richards, Douglas R Stewart, Christa Lese Martin, David T Miller
No abstract text is available yet for this article.
May 30, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/38814327/laboratory-testing-for-preconception-prenatal-carrier-screening-a-technical-standard-of-the-american-college-of-medical-genetics-and-genomics-acmg
#12
Saurav Guha, Honey V Reddi, Mahmoud Aarabi, Marina DiStefano, Erin Wakeling, Jeffrey S Dungan, Anthony R Gregg
Carrier screening has historically assessed a relatively small number of autosomal recessive and X-linked conditions selected based on frequency in a specific subpopulation and association with severe morbidity or mortality. Advances in genomic technologies enable simultaneous screening of individuals for several conditions. The American College of Medical Genetics and Genomics recently published a clinical practice resource that presents a framework when offering screening for autosomal recessive and X-linked conditions during pregnancy and preconception and recommends a tier-based approach when considering the number of conditions to screen for and their frequency within the US population in general...
May 30, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/38829299/validation-of-a-clinical-breast-cancer-risk-assessment-tool-combining-a-polygenic-score-for-all-ancestries-with-traditional-risk-factors
#13
JOURNAL ARTICLE
Brent Mabey, Elisha Hughes, Matthew Kucera, Timothy Simmons, Brooke Hullinger, Holly J Pederson, Lamis Yehia, Charis Eng, Judy Garber, Monique Gary, Ora Gordon, Jennifer R Klemp, Semanti Mukherjee, Joseph Vijai, Kenneth Offit, Olufunmilayo I Olopade, Sandhya Pruthi, Allison Kurian, Mark E Robson, Pat W Whitworth, Tuya Pal, Sarah Ratzel, Susanne Wagner, Jerry S Lanchbury, Katherine Johansen Taber, Thomas P Slavin, Alexander Gutin
PURPOSE: We previously described a combined risk score (CRS) that integrates a multiple-ancestry polygenic risk score (MA-PRS) with the Tyrer-Cuzick (TC) model to assess breast cancer (BC) risk. Here, we present a longitudinal validation of CRS in a real-world cohort. METHODS: This study included 130,058 patients referred for hereditary cancer genetic testing and negative for germline pathogenic variants in BC-associated genes. Data were obtained by linking genetic test results to medical claims (median follow-up 12...
May 28, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/38818797/natural-history-of-adults-with-kbg-syndrome-a-physician-reported-experience
#14
JOURNAL ARTICLE
Allan Bayat, Hannah Grimes, Elke de Boer, Morten Krogh Herlin, Rebekka Staal Dahl, Ida Charlotte Bay Lund, Michael Bayat, Anneli Clea Skjelmose Bolund, Cathrine Elisabeth Gjerulfsen, Pernille Axél Gregersen, Monica Zilmer, Stefan Juhl, Katarzyna Cebula, Elisa Rahikkala, Isabelle Maystadt, Angela Peron, Aglaia Vignoli, Rosa Maria Alfano, Franco Stanzial, Francesco Benedicenti, Aurora Currò, Ho-Ming Luk, Guillaume Jouret, Ella Zurita, Lara Heuft, Franziska Schnabel, Andreas Busche, Hermine Elisabeth Veenstra-Knol, Tinatin Tkemaladze, Pascal Vrielynck, Damien Lederer, Konrad Platzer, Charlotte Wilhelmina Ockeloen, Himanshu Goel, Karen Jaqueline Low
PURPOSE: KBG syndrome (KBGS) is a rare neurodevelopmental syndrome caused by haploinsufficiency of ANKRD11. The childhood phenotype is extensively reported but limited for adults. Thus, we aimed to delineate the clinical features of KBGS. METHODS: We collected physician-reported data of adults with molecularly confirmed KBGS through an international collaboration. Moreover, we undertook a systematic literature review to determine the scope of previously reported data...
May 27, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/38785164/heterogeneity-of-comprehensive-clinical-phenotype-and-longitudinal-adaptive-function-and-correlation-with-computational-predictions-of-severity-of-missense-genotypes-in-kif1a-associated-neurological-disorder
#15
JOURNAL ARTICLE
Khemika K Sudnawa, Wenxing Li, Sean Calamia, Cara H Kanner, Jennifer M Bain, Aliaa H Abdelhakim, Alexa Geltzeiler, Caroline M Mebane, Frank A Provenzano, Tristan T Sands, Robert J Fee, Jacqueline Montes, Yufeng Shen, Wendy K Chung
PURPOSE: Pathogenic variants in Kinesin Family Member 1A (KIF1A) are associated with KIF1A-associated neurological disorder (KAND). We report the clinical phenotypes and correlate genotypes of individuals with KAND. METHODS: Medical history and adaptive function were assessed longitudinally. In-person evaluations included neurological, motor, ophthalmologic and cognitive assessments. RESULTS: We collected online data on 177 individuals. Fifty-seven individuals were also assessed in-person...
May 20, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/38770750/genome-wide-epigenetic-signatures-facilitated-the-variant-classification-of-pura-gene-and-uncovered-the-pathomechanism-of-pura-related-neurodevelopmental-disorders
#16
JOURNAL ARTICLE
Bing Xiao, Weiqian Dai, Yongkun Zhan, Wenjuan Qiu, Huiwen Zhang, DanPing Liu, Na Xu, Yongguo Yu
PURPOSE: Rare genetic variants in the PURA gene cause PURA-related neurodevelopmental disorder (PURA-NDD), characterized by neonatal abnormalities and developmental delay. Using genome-wide DNA methylation analysis on patients with PURA variants, we aim to establish PURA-NDD-specific methylation profile and provide further insights on the molecular basis of the PURA-NDD. METHODS: 23 individuals (including 12 unpublished) carrying PURA variants were enrolled. We conducted the Illumina Infinium EPIC microarray analysis in 17 PURA-NDD individuals...
May 17, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/38767058/genomic-sequencing-research-in-pediatric-cancer-care-decision-making-attitudes-and-perceived-utility-among-adolescents-and-young-adults-and-their-parents
#17
JOURNAL ARTICLE
Amanda M Gutierrez, Jill O Robinson, Hadley S Smith, Lauren R Desrosiers, Sarah R Scollon, Isabel Canfield, Rebecca L Hsu, Nicole M Schneider, D Williams Parsons, Sharon E Plon, Wendy Allen-Rhoades, Mary A Majumder, Janet Malek, Amy L McGuire
PURPOSE: Professional guidelines recommend engaging adolescents and young adults (AYAs) in medical decision-making (DM), including whether to undergo genomic sequencing (GS). We explored DM around GS and attitudes after return of GS results among a diverse group of AYAs with cancer and their parents. METHODS: We surveyed AYAs with cancer (n=75) and their parents (n=52) six months after receiving GS results through the Texas KidsCanSeq Study. We analyzed AYAs' DM role in GS research enrollment and their satisfaction with that role...
May 17, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/38767059/loss-of-function-of-fam177a1-a-golgi-complex-localized-protein-causes-a-novel-neurodevelopmental-disorder
#18
JOURNAL ARTICLE
Jennefer N Kohler, Nicole R Legro, Dustin Baldridge, Jimann Shin, Angela Bowman, Berrak Ugur, Madelyn M Jackstadt, Leah P Shriver, Gary J Patti, Bo Zhang, Wenjia Feng, Anthony R McAdow, Pagé Goddard, Rachel A Ungar, Tanner Jensen, Kevin S Smith, Laure Fresard, Raquel Alvarez, Devon Bonner, Chloe M Reuter, Colleen McCormack, Elijah Kravets, Shruti Marwaha, James M Holt, Elizabeth Worthey, Euan A Ashley, Stephen B Montgomery, Paul Fisher, John Postlethwait, Pietro De Camilli, Lila Solnica-Krezel, Jonathan A Bernstein, Matthew T Wheeler
PURPOSE: The function of FAM177A1 and its relationship to human disease is largely unknown. Recent studies have demonstrated FAM177A1 to be a critical immune-associated gene. One previous case study has linked FAM177A1 to a neurodevelopmental disorder in four siblings. METHODS: We identified five individuals from three unrelated families with biallelic variants in FAM177A1. The physiological function of FAM177A1 was studied in a zebrafish model organism and human cell lines with loss-of-function variants similar to the affected cohort...
May 16, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/38762772/phenotypic-and-genetic-spectra-of-galactose-mutarotase-deficiency-a-nationwide-survey-conducted-in-japan
#19
JOURNAL ARTICLE
Yasuko Mikami-Saito, Yoichi Wada, Natsuko Arai-Ichinoi, Yoko Nakajima, Sayaka Suzuki-Ajihara, Kei Murayama, Toju Tanaka, Chikahiko Numakura, Takashi Hamazaki, Noboru Igarashi, Hiroyuki Esaki, Reiko Kagawa, Tomotaka Kono, Takaaki Sawada, Tomo Sawada, Hiromi Nyuzuki, Hiroki Hirai, Seiko Fumoto, Junko Matsuda, Ayako Matsunaga, Shinsuke Maruyama, Kenichiro Yamaguchi, Miwa Yoshino, Eriko Totsune, Atsuo Kikuchi, Toshihiro Ohura, Shigeo Kure
PURPOSE: Galactose mutarotase (GALM) deficiency was first reported in 2019 as the fourth type of galactosemia. This study aimed to investigate the clinical and genotypic spectra of GALM deficiency. METHODS: This was a questionnaire-based retrospective survey conducted in Japan between February 2022 and March 2023. RESULTS: We identified 40 patients with GALM deficiency in Japan (estimated prevalence: 1:181,835). Four of 38 patients (10.5%) developed cataracts, which resolved with lactose restriction in three out of four patients...
May 16, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/38748538/comparison-of-literature-mining-tools-for-variant-classification-through-the-lens-of-50-ryr1-variants
#20
Zara Wermers, Seeley Yoo, Bailey Radenbaugh, Amber Douglass, Leslie G Biesecker, Jennifer J Johnston
No abstract text is available yet for this article.
May 15, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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