Publication Date: May 28, 2020
Human Genomics across the Lifespan
Birth Defects and Child Health
- 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
- 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 - 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 - Cancer risk management among female BRCA1/2, PALB2, CHEK2, and ATM carriers.
Cragun Deborah et al. Breast cancer research and treatment 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
Chronic Disease
- Utility of genetic testing for therapeutic decision-making in adults with epilepsy.
Johannesen Katrine M et al. Epilepsia 2020 May
Ethical, Legal and Social Issues (ELSI)
- 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
General Practice
- 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
- 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
- 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
- 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
- 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
Disclaimer: Articles listed in Health Impact Weekly Scan are selected by the CDC Office of Public Health Genomics to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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