Published on 05/28/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
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Screening for primary immunodeficiency diseases by next-generation sequencing in early life.
Sun Jinqiao et al. Clinical & translational immunology 2020 May 9(5) e1138 -
Precision of a Clinical Metabolomics Profiling Platform for Use in the Identification of Inborn Errors of Metabolism.
Ford Lisa et al. The journal of applied laboratory medicine 2020 Mar 5(2) 342-356 -
Development and Validation of a Next-Generation Sequencing Panel for Syndromic and Nonsyndromic Hearing Loss.
Butz Malinda et al. The journal of applied laboratory medicine 2020 May 5(3) 467-479 -
Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability.
Grange Thomas et al. Genes 2020 May 11(5) -
Parent perceptions, beliefs, and fears around genetic treatments and cures for children with Angelman syndrome.
Adams Dawn et al. American journal of medical genetics. Part A 2020 May -
State of the Art of Genetic Testing for Patients With Autism: A Practical Guide for Clinicians.
Kreiman Bracha L et al. Seminars in pediatric neurology 2020 Jul 34100804 -
EMQN best practice guidelines for genetic testing in dystrophinopathies.
Fratter Carl et al. European journal of human genetics : EJHG 2020 May
Cancer
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Low accuracy of self-reported family history of melanoma in high-risk patients.
Flint Nicholas D et al. Familial cancer 2020 May -
Women's responses and understanding of polygenic breast cancer risk information.
Yanes T et al. Familial cancer 2020 May -
Patient experience of uncertainty in cancer genomics: a systematic review.
Bartley Nicci et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 May -
Risk factors for metachronous colorectal cancer in Lynch syndrome patients: a registry-based observational mono-institutional study cohort.
Signoroni Stefano et al. International journal of clinical oncology 2020 May -
Exploring Prostate Cancer Patients' Interest and Preferences for Receiving Genetic Risk Information About Cancer Aggressiveness.
Roy Siddhartha et al. American journal of men's health 14(3) 1557988320919626 -
Engaging Men With BRCA-Related Cancer Risks: Practical Advice for BRCA Risk Management From Male Stakeholders.
Dean Marleah et al. American journal of men's health 14(3) 1557988320924932 -
"I need to know if I'm going to die young": Adolescent and young adult experiences of genetic testing for Li-Fraumeni syndrome.
Forbes Shepherd Rowan et al. Journal of psychosocial oncology 2020 May 1-20 -
Cancer risks in Lynch syndrome, Lynch-like syndrome, and familial colorectal cancer type X: a prospective cohort study.
Bucksch Karolin et al. BMC cancer 2020 May 20(1) 460 -
Cancer-risk by family history and mismatch-repair mutation in Lynch syndrome.
Marques-de-Sá Inês et al. Scandinavian journal of gastroenterology 2020 May 1-5 -
Targeted next generation sequencing of MLH1-deficient, MLH1 promoter hypermethylated and BRAF/RAS-wild-type colorectal adenocarcinomas is effective in detecting tumors with actionable oncogenic gene fusions.
VaNková Bohuslava et al. Genes, chromosomes & cancer 2020 May -
Genetic markers for treatment-related pancreatitis in a cohort of Hispanic children with acute lymphoblastic leukemia.
Grimes Allison C et al. Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer 2020 May -
Factors associated with referral and completion of genetic counseling in women with epithelial ovarian cancer.
Alimena Stephanie et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2020 May -
Cancer risk management among female BRCA1/2, PALB2, CHEK2, and ATM carriers.
Cragun Deborah et al. Breast cancer research and treatment 2020 May -
Advanced Cancer Patient Knowledge of and Attitudes towards Tumor Molecular Profiling.
Davies Grace et al. Translational oncology 2020 May 13(9) 100799 -
The Essentials of Molecular Testing in CNS Tumors: What to Order and How to Integrate Results.
Feldman Alexander Z et al. Current neurology and neuroscience reports 2020 May 20(7) 23 -
Molecular testing on bronchial washings for the diagnosis and predictive assessment of lung cancer.
Roncarati Roberta et al. Molecular oncology 2020 May -
Impact of family history risk assessment on surgical decisions and imaging surveillance at breast cancer diagnosis.
Jones S et al. Annals of the Royal College of Surgeons of England 2020 May 1-4 -
Cancer genomics predicts disease relapse and therapeutic response to neoadjuvant chemotherapy of hormone sensitive breast cancers.
Zhu Jieqiang et al. Scientific reports 2020 May 10(1) 8188 -
The International Association for the Study of Lung Cancer (IASLC) Global Survey on Molecular Testing in Lung Cancer.
Smeltzer Matthew P et al. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2020 May
Chronic Disease
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Utility of genetic testing for therapeutic decision-making in adults with epilepsy.
Johannesen Katrine M et al. Epilepsia 2020 May
Ethics/Policy/Law
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Genomic Sequencing Capacity, Data Retention, and Personal Access to Raw Data in Europe.
Narayanasamy Shaman et al. Frontiers in genetics 2020 11303 -
'There is a lot of good in knowing, but there is also a lot of downs': public views on ethical considerations in population genomic screening.
Smit Amelia K et al. Journal of medical ethics 2020 May -
Genetic Testing May Help Reduce Breast Cancer Disparities for African American Women.
McCarthy Anne Marie et al. Journal of the National Cancer Institute 2020 May -
A Scenario-Based Methodology for Analyzing the Ethical, Legal, and Social Issues in Genomic Data Sharing.
McWhirter Rebekah et al. Journal of empirical research on human research ethics : JERHRE 2020 May 1556264620920460
Practice
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Impacts of genesurance considerations on genetic counselors' practice and attitudes.
Thoreson Emily et al. Journal of genetic counseling 2020 May -
Genotype concordance and polygenic risk score estimation across consumer genetic testing data.
Batra Prag et al. Annals of human genetics 2020 May -
Evidenced-Based Screening Strategies for a Positive Family History.
Kolb Jennifer M et al. Gastrointestinal endoscopy clinics of North America 2020 Jul 30(3) 597-609 -
Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis.
Alaimo Joseph T et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 May -
Polygenic risk scores: from research tools to clinical instruments.
Lewis Cathryn M et al. Genome medicine 2020 May 12(1) 44 -
Quality of life drives patients' preferences for secondary findings from genomic sequencing.
Mighton Chloe et al. European journal of human genetics : EJHG 2020 May
Heart, Lung, Blood and Sleep Diseases
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Diagnostic CMR Imaging Criteria in Noncompaction Cardiomyopathy and the Yield of Genetic Testing.
van Waning Jaap I et al. The Canadian journal of cardiology 2020 May -
Worldwide Prevalence of Familial Hypercholesterolemia: Meta-Analyses of 11 Million Subjects.
Beheshti Sabina O et al. Journal of the American College of Cardiology 2020 May 75(20) 2553-2566 -
Integration of Mobile Health Into Sickle Cell Disease Care to Increase Hydroxyurea Utilization: Efficacy and Implementation Study.
Hankins Jane S et al. JMIR research protocols 2020 Apr
Newborn Screening
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Information and Emotional Support Needs of Families Whose Infant Was Diagnosed With SCID Through Newborn Screening.
Raspa Melissa et al. Frontiers in immunology 2020 11885 -
Parental Views on Newborn Next Generation Sequencing: Implications for Decision Support.
Moultrie Rebecca R et al. Maternal and child health journal 2020 May
Pharmacogenomics
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Pharmacogenetics of Postoperative Pain Management: A Review.
Aroke Edwin N et al. AANA journal 2020 Jun 88(3) 229-236 -
Clinical Validation of a 106-SNV MALDI-ToF MS Pharmacogenomic Panel.
Williams Grace R et al. The journal of applied laboratory medicine 2020 May 5(3) 454-466 -
Use of antidepressants with pharmacogenetic prescribing guidelines in a 10-year depression cohort of adult primary care patients.
D Jessel Chaten et al. Pharmacogenetics and genomics 2020 May -
Cost-effectiveness analysis of pretreatment screening for NUDT15 defective alleles.
Zarca Kevin et al. Pharmacogenetics and genomics 2020 May -
Challenges in pharmacotherapy for older adults: a framework for pharmacogenomics implementation.
Roman Youssef M et al. Pharmacogenomics 2020 May -
Comparing outcomes and costs among warfarin-sensitive patients versus warfarin-insensitive patients using The Right Drug, Right Dose, Right Time: Using genomic data to individualize treatment (RIGHT) 10K warfarin cohort.
Swanson Kristi M et al. PloS one 2020 15(5) e0233316
Reproductive Health
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Comparison of indications and results of prenatal invasive diagnostic tests before and after the implementation of the use of cell-free fetal DNA: a tertiary referral center experience.
Okmen Firat et al. Journal of assisted reproduction and genetics 2020 May -
First-trimester screening for trisomy 21 via an individualized nomogram.
Sun Y et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2020 May -
Making the most of the first prenatal visit: The challenge of expanding prenatal genetic testing options and limited clinical encounter time.
Farrell Ruth M et al. Prenatal diagnosis 2020 May