Published on 06/11/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
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The clinical utility of total concentration of urinary globotriaosylsphingosine plus its analogues in the diagnosis of Fabry disease.
Alharbi Fahad J et al. Clinica chimica acta; international journal of clinical chemistry 2020 Jan 500120-127 -
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Diñeiro Marta et al. Acta ophthalmologica 2020 Jun -
"It wasn't just for me": Motivations and implications of genetic testing for women at a low risk of hereditary breast and ovarian cancer syndrome.
Gill Gulvir et al. Psycho-oncology 2020 Jun -
Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity.
Okano Tsubasa et al. Journal of clinical immunology 2020 Jun -
Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases.
Mellerio Jemima E et al. Orphanet journal of rare diseases 2020 Jun 15(1) 142 -
Overwhelming genetic heterogeneity and exhausting molecular diagnostic process in chronic and progressive ataxias: facing it up with an algorithm, a gene, a panel at a time.
Perez Maturo J et al. Journal of human genetics 2020 Jun -
WilsonGen a comprehensive clinically annotated genomic variant resource for Wilson's Disease.
Kumar Mukesh et al. Scientific reports 2020 Jun 10(1) 9037
Cancer
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Germline Genetic Mutations in a Multi-center Contemporary Cohort of 550 Phyllodes Tumors: An Opportunity for Expanded Multi-gene Panel Testing.
Rosenberger Laura H et al. Annals of surgical oncology 2020 Jun -
Contralateral breast cancer and tumor recurrence in BRCA1/2 carriers and non-carriers at a high risk of hereditary breast cancer after bilateral mastectomy.
Allué Cabañuz Marta et al. Cirugia espanola 2020 Jun -
Estimating the costs of genomic sequencing in cancer control.
Gordon Louisa G et al. BMC health services research 2020 Jun 20(1) 492 -
Setting a baseline: A 7-year review of referral rates and outcomes for serous ovarian cancer prior to implementation of oncologist mediated genetic testing.
Armel Susan Randall et al. Gynecologic oncology 2020 Jun -
Presentation and Follow-up of Familial Adenomatous Polyposis: Differences Between APC and MUTYH Mutations.
Bademci Refik et al. Cirugia espanola 2020 Jun -
Cost-Effectiveness of the Manchester Approach to Identifying Lynch Syndrome in Women with Endometrial Cancer.
Snowsill Tristan M et al. Journal of clinical medicine 2020 Jun 9(6) -
Evaluating the Impact of Oncology Care Model Reporting Requirements on Biomarker Testing and Treatment.
Castellanos Emily H et al. JCO oncology practice 2020 Jun JOP1900747 -
Prospective observational data informs understanding and future management of Lynch syndrome: insights from the Prospective Lynch Syndrome Database (PLSD).
Seppälä Toni T et al. Familial cancer 2020 Jun -
How to improve the identification of patients with cancer eligible for genetic counselling?
Bracci Raffaella et al. European journal of cancer care 2020 Jun e13276 -
Evaluation of yield and experiences of age-related molecular investigation for heritable and nonheritable causes of mismatch repair deficient colorectal cancer to identify Lynch syndrome.
Vos Janet R et al. International journal of cancer 2020 Jun -
Next-generation sequencing in residual liquid-based cytology specimens for cancer genome analysis.
Yamaguchi Tomomi et al. Diagnostic cytopathology 2020 Jun -
Increased Risk of Colorectal Cancer Tied to Advanced Colorectal Polyps: An Untapped Opportunity to Screen First-Degree Relatives and Decrease Cancer Burden.
Kolb Jennifer M et al. The American journal of gastroenterology 2020 Jun -
Pathogenic Germline Mutations in DNA Repair Genes in Combination With Cancer Treatment Exposures and Risk of Subsequent Neoplasms Among Long-Term Survivors of Childhood Cancer.
Qin Na et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2020 Jun JCO1902760 -
Underutilization of Lynch Syndrome Screening at Two Large Veterans Affairs Medical Centers.
Mittal Chetan et al. Digestive diseases and sciences 2020 Jun -
Molecular characterization of breast cancer needle core biopsy specimens by the 21-gene Breast Recurrence Score test.
Jakubowski Debbie M et al. Journal of surgical oncology 2020 Jun -
Clinical outcome and toxicity from taxanes in breast cancer patients with BRCA1 and BRCA2 pathogenic germline mutations.
Bayraktar Soley et al. The breast journal 2020 Jun
Chronic Disease
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High Rates of Genetic Diagnosis in Psychiatric Patients with and without Neurodevelopmental Disorders: Toward Improved Genetic Diagnosis in Psychiatric Populations.
So Joyce et al. Canadian journal of psychiatry. Revue canadienne de psychiatrie 2020 Jun 706743720931234
Ethics/Policy/Law
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Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures.
Popejoy Alice B et al. American journal of human genetics 2020 Jun -
The Case for Remedial Germline Editing-The Long-term View.
Adashi Eli Y et al. JAMA 2020 May 323(18) 1762-1763 -
Ethical considerations of gene editing and genetic selection.
Rothschild Jodie et al. Journal of general and family medicine 2020 May 21(3) 37-47 -
Genetic testing in dyslipidemia: A scientific statement from the National Lipid Association.
Brown Emily E et al. Journal of clinical lipidology 2020 May -
Accessing medical biobanks to solve crimes: ethical considerations.
de Groot Nina F et al. Journal of medical ethics 2020 Jun -
Importance of Genetic Studies of Cardiometabolic Disease in Diverse Populations.
Fernández-Rhodes Lindsay et al. Circulation research 2020 Jun 126(12) 1816-1840
Practice
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Impact of direct-to-consumer genetic testing on Australian clinical genetics services.
Millward Michael et al. European journal of medical genetics 2020 Jun 103968 -
Assessing the effectiveness of actionable nutrigenomics and lifestyle genomics interventions for weight management in clinical practice: A critical, scoping review with directions for future research.
Horne Justine et al. Nutrition and health 2020 Jun 260106020928667
Heart, Lung, Blood and Sleep Diseases
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Limitations of Contemporary Guidelines for Managing Patients at High Genetic Risk of Coronary Artery Disease.
Aragam Krishna G et al. Journal of the American College of Cardiology 2020 Jun 75(22) 2769-2780 -
Systematic review of the clinical outcomes of iron reduction in Hereditary Hemochromatosis.
Prabhu Anil et al. Hepatology (Baltimore, Md.) 2020 Jun -
Laboratory reporting on the clinical spectrum of CFTR p.Arg117His: Still room for improvement.
Laudus Nele et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2020 Jun -
Polygenic risk scores outperform machine learning methods in predicting coronary artery disease status.
Gola Damian et al. Genetic epidemiology 2020 44(2) 125-138
Newborn Screening
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Relation of public health staffing to follow-up after newborn hearing screening in three health districts in Georgia, 2009-2015.
Al-Mulki Kareem et al. International journal of pediatric otorhinolaryngology 2020 Feb 129109784 -
Newborn screening-detected 21-hydroxylase deficiency: growth pattern is not associated with the genotype.
David Jan et al. Minerva pediatrica 2020 Jun
Pharmacogenomics
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Combinatorial Pharmacogenomic Algorithm is Predictive of Citalopram and Escitalopram Metabolism in Patients with Major Depressive Disorder.
Shelton Richard C et al. Psychiatry research 2020 May 290113017 -
Clinical utility of next generation sequencing based HLA typing for disease association and pharmacogenetic testing.
Profaizer Tracie et al. Human immunology 2020 Jun -
CYP2C19 allele frequencies in over 2.2 million direct-to-consumer genetics research participants and the potential implication for prescriptions in a large health system.
Ionova Yelena et al. Clinical and translational science 2020 Jun -
Pharmacogenomics: Current Actionable Variants.
González-Covarrubias Vanessa et al. Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion 2020 May 73(3) -
Using pharmacogenetics to predict methotrexate response in rheumatoid arthritis patients.
Szostak Bartosz et al. Expert opinion on drug metabolism & toxicology 2020 Jun -
PHARMACOGENOMICS OF ANTI-CANCER DRUGS: personalizing the CHOICE AND dose TO managE drug response.
Carr Daniel F et al. British journal of clinical pharmacology 2020 Jun
Reproductive Health
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Access to reproductive options after prenatal diagnosis-patient access and physician responsibilities: an updated position statement of the American College of Medical Genetics and Genomics (ACMG).
et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 22(1) 3 -
Attitudes of relatives of mucopolysaccharidosis type III patients toward preconception expanded carrier screening.
Nijmeijer Stephanie C M et al. European journal of human genetics : EJHG 2020 Jun -
Outcomes of Preimplantation Genetic Testing for Single Gene Defects in a Privately Funded Period and Publicly Funded Period: A North-American Single Center Experience.
Shaulov Talya et al. Journal of reproduction & infertility 21(2) 107-115 -
Preimplantation Genetic Testing for Chromosomal Abnormalities: Aneuploidy, Mosaicism, and Structural Rearrangements.
Viotti Manuel et al. Genes 2020 May 11(6) -
Clinical application of medical exome sequencing for prenatal diagnosis of fetal structural anomalies.
Chen Min et al. European journal of obstetrics, gynecology, and reproductive biology 2020 May 251119-124