Published on 11/02/2023
Human Genomics across the Lifespan
Birth Defects and Child Health
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Physician services and costs after disclosure of diagnostic sequencing results in the NYCKidSeq program.
Asem Berkalieva et al. Genet Med 2023 101011 -
Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context.
Michelle van Slobbe et al. Eur J Pediatr 2023 -
Repurposing Normal Chromosomal Microarray Data to Harbor Genetic Insights into Congenital Heart Disease.
Nephi A Walton et al. Biology (Basel) 2023 12(10) -
Genetic counselors and congenital heart disease: Clinical roles, genetic testing practices, and perceived genetic testing utility.
Sara M Fitzgerald-Butt et al. J Genet Couns 2023 -
Parents' attitudes towards research involving genome sequencing of their healthy children: a qualitative study.
Christina Di Carlo et al. Eur J Hum Genet 2023
Cancer Genomics
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Using MammaPrint on core needle biopsy to guide the need for axillary staging during breast surgery.
Lauren M Drapalik et al. Surgery 2023 -
DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial Glands.
Romy Walker et al. Cancers (Basel) 2023 15(20) -
Comprehensive Genomic Profiling in Predictive Testing of Cancer.
M Svoboda et al. Physiol Res 2023 72(S3) S267-S275
Hereditary Cancer
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Implementation, Evolution, and Laboratory Performance of Methods-Based Proficiency Testing for Next-Generation Sequencing Detection of Germline Sequence Variants.
Karen D Tsuchiya et al. Arch Pathol Lab Med 2023 -
Screening uptake of colonoscopy versus fecal immunochemical testing in first-degree relatives of patients with non-syndromic colorectal cancer: A multicenter, open-label, parallel-group, randomized trial (ParCoFit study).
Natalia González-López et al. PLoS Med 2023 20(10) e1004298 -
Exploring Stakeholders' Perspectives on Implementing Universal Germline Testing for Colorectal Cancer: Findings From a Clinical Practice Survey.
Linda Rodgers-Fouche et al. JCO Precis Oncol 2023 7e2300440 -
Hereditary cancer testing in a diverse sample across three breast imaging centers.
Laura Westbrook et al. Breast Cancer Res Treat 2023 -
Current practice of cancer predisposition testing in pediatric patients with CNS tumors in the United States.
Baylee Roy et al. Pediatr Blood Cancer 2023 e30725 -
Management of Women at High Risk for Breast Cancer.
Lashika Yogendran et al. J Am Board Fam Med 2023 -
The diagnostic yield of genetic testing in patients with multiple colorectal adenomas: a specialist centre cohort study.
Sau Mak et al. Clin Transl Gastroenterol 2023 -
NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024.
Mary B Daly et al. J Natl Compr Canc Netw 2023 21(10) 1000-1010 -
Colorectal Cancer Screening for Persons With a Positive Family History—Evaluation of the FARKOR Program for the Secondary Prevention of Colorectal Cancer in Persons Aged 25 to 50.
Alexander Crispin et al. Dtsch Arztebl Int 2023 (Forthcoming) -
Province-Wide Ascertainment of Lynch Syndrome in Manitoba.
Heidi Rothenmund et al. Clin Gastroenterol Hepatol 2023 -
Implementation of a dedicated cascade testing clinic for patients at risk for hereditary cancer syndromes.
Michelle F Jacobs et al. J Genet Couns 2023 -
Less is more: rethinking colorectal cancer resection strategies in Lynch syndrome.
Bryson W Katona et al. Lancet Gastroenterol Hepatol 2023 -
Family History and Risk of Renal Cell Carcinoma: A National Multi-Register Case-Control Study.
Rasmus G Jakobsson et al. J Urol 2023 101097JU0000000000003765 -
"There should be one spot that you can go:" BRCA mutation carriers' perspectives on cancer risk management and a hereditary cancer registry.
J Hynes et al. J Community Genet 2023
Chronic Disease
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Black Patients Equally Benefit From Renal Genetics Evaluation but Substantial Barriers in Access Exist.
Chloe Borden et al. Kidney Int Rep 2023 8(10) 2068-2076 -
End-of-Life Discussions With Patients and Caregivers Affected By Neurogenetic Diseases.
Dorsemans Anne-Claire et al. Neurol Clin Pract 2023 13(6) e200199
Ethics/Policy/Law
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Research participants' perception of ethical issues in stroke genomics and neurobiobanking research in Africa.
Ayodele Jegede et al. medRxiv 2023 -
Commoning genomic solidarity to improve global health equality.
Joy Y Zhang et al. Cell Genom 2023 3(10) 100405
Practice
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Genetic counseling clinic model expansion: Impact on access for general genetics clinic.
Rachel Doberstein et al. J Genet Couns 2023 -
Knowledge, Attitude, and Practice About the Process of Genetic Counselling Among Clinicians.
Jyoti P Kulkarni et al. Cureus 2023 15(9) e45883 -
Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing.
Jodell E Linder et al. Am J Hum Genet 2023 -
Disability education and implications for genetic counselor training.
Lauren Douglas et al. J Genet Couns 2023 -
PRScalc, a privacy-preserving calculation of raw polygenic risk scores from direct-to-consumer genomics data.
Lorena Sandoval et al. Bioinform Adv 2023 3(1) vbad145
Heart, Lung, Blood and Sleep Diseases
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High lipoprotein(a) may explain one quarter of clinical familial hypercholesterolemia diagnoses in Danish lipid clinics.
Berit Storgaard Hedegaard et al. J Clin Endocrinol Metab 2023 -
Etranacogene dezaparvovec for the treatment of adult patients with severe and moderately severe hemophilia B.
Giancarlo Castaman et al. Expert Rev Hematol 2023 -
Patients With Hypertrophic Cardiomyopathy and Normal Genetic Investigations Have Few Affected Relatives.
Søren K Nielsen et al. J Am Coll Cardiol 2023 82(18) 1751-1761 -
Screening for haemoglobin disorders: One size may not fit all.
Lisa M Shook et al. Br J Haematol 2023 -
Testing and Management of Iron Overload After Genetic Screening-Identified Hemochromatosis.
Juliann M Savatt et al. JAMA Netw Open 2023 6(10) e2338995 -
Every CFTR variant counts - Target-capture based next-generation-sequencing for molecular diagnosis in the German CF Registry.
Simone Ahting et al. J Cyst Fibros 2023
Newborn Screening
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A Review of Disparities and Unmet Newborn Screening Needs over 33 Years in a Cohort of Mexican Patients with Inborn Errors of Intermediary Metabolism.
Isabel Ibarra-González et al. Int J Neonatal Screen 2023 9(4) -
Prospects for Expansion of Universal Newborn Screening in Bulgaria: A Survey among Medical Professionals.
Georgi Iskrov et al. Int J Neonatal Screen 2023 9(4) -
Call to Action for Advancing Equitable Genomic Newborn Screening.
Anne L Ersig et al. Public Health Genomics 2023
Pharmacogenomics
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Implementation of Pharmacogenetics in First-Line Care: Evaluation of Its Use by General Practitioners.
Denise van der Drift et al. Genes (Basel) 2023 14(10) -
Population Pharmacogenomics for Health Equity.
I King Jordan et al. Genes (Basel) 2023 14(10) -
The Clinical Implementation of CYP2C19 Genotyping in Patients with an Acute Coronary Syndrome: Insights From the FORCE-ACS Registry.
Jaouad Azzahhafi et al. J Cardiovasc Pharmacol Ther 2023 2810742484231210704 -
Pharmacogenetic testing may benefit people receiving low-dose lithium in clinical practice.
Michael Ray Dickerson et al. J Am Assoc Nurse Pract 2023 -
Patient and health care professional acceptability of pharmacogenetic screening for DPYD and UGT1A1: a cross sectional survey.
Sarah Glewis et al. Clin Transl Sci 2023
Reproductive Health
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Prevalence of high-penetrant copy number variants in 7,734 low-risk pregnancies.
Lena Sagi-Dain et al. Am J Obstet Gynecol MFM 2023 101201 -
A systematic review and meta-analysis: clinical outcomes of recurrent pregnancy failure resulting from preimplantation genetic testing for aneuploidy.
Zhuo Liang et al. Front Endocrinol (Lausanne) 2023 141178294 -
The potential impact of implementation of expanded carrier screening on pediatric patient diagnoses: A retrospective chart review of patients who receive care in an outpatient genetics clinic in the northeast.
Kelly Roche et al. J Genet Couns 2023 -
Effectiveness of preconceptional and prenatal cystic fibrosis carrier screening: a systematic review.
Rita Banzi et al. Epidemiol Prev 2023 47(4-5) 243-256