Publication Date: Oct 31, 2019
Human Genomics across the Lifespan
Birth Defects and Child Health
- Testing Modalities for Inborn Errors of Metabolism - What a Clinician Needs to Know?
Bijarnia-Mahay Sunita et al. Indian pediatrics 2019 Sep 56(9) 757-766 - Diagnostics of Hereditary Connective Tissue Disorders by Genetic Next-Generation Sequencing.
Pope Marita Knudsen et al. Genetic testing and molecular biomarkers 2019 Oct - DiGeorge Syndrome Chromosome Region Deletion and Duplication: Prenatal Genotype-Phenotype Variability in Fetal Ultrasound and MRI.
Tramontana Allessandra et al. Prenatal diagnosis 2019 Oct
Cancer
- Family Health Leaders: Lessons on Living with Li-Fraumeni Syndrome across Generations.
Pantaleao Ashley et al. Family process 2019 Oct - Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report.
Dominguez-Valentin Mev et al. Hereditary cancer in clinical practice 2019 1728 - Outcomes of women at high familial risk for breast cancer: An 8-year single-center experience.
Lammert Jacqueline et al. Asia-Pacific journal of clinical oncology 2019 Oct - Machine Learning by Ultrasonography for Genetic Risk Stratification of Thyroid Nodules.
Daniels Kelly et al. JAMA otolaryngology-- head & neck surgery 2019 Oct 1-6 - Does preventive oophorectomy increase the risk of depression in BRCA mutation carriers?
Kotsopoulos Joanne et al. Menopause (New York, N.Y.) 2019 Oct - Breast cancer risk assessment in patients who test negative for a hereditary cancer syndrome.
Breit Caroline et al. American journal of surgery 2019 Oct - A comprehensive understanding of ovarian carcinoma survival prognosis by novel biomarkers.
Wang Y et al. European review for medical and pharmacological sciences 2019 Oct 23(19) 8257-8264 - Alaska Native Patient and Provider Perspectives on the Multitarget Stool DNA Test Compared With Colonoscopy for Colorectal Cancer Screening.
Redwood Diana G et al. Journal of primary care & community health 102150132719884295 - Investigation on the hereditary basis of colorectal cancers in an African population with frequent early onset cases.
Katsidzira Leolin et al. PloS one 2019 14(10) e0224023
Chronic Disease
- Clinical implications of recent advances in primary open-angle glaucoma genetics.
Choquet Hélène et al. Eye (London, England) 2019 Oct - Cognitive Screening Tests in Huntington Gene Mutation Carriers: Examining the Validity of the Mini-Mental State Examination and the Montreal Cognitive Assessment.
Ringkøbing Signe Pertou et al. Journal of Huntington's disease 2019 Oct - Positive Impact of Expert Reference Center Validation on Performance of Next-Generation Sequencing for Genetic Diagnosis of Autoinflammatory Diseases.
Boursier Guilaine et al. Journal of clinical medicine 2019 Oct 8(10) - Leptin receptor deficiency: a systematic literature review and prevalence estimation based on population genetics.
Kleinendorst Lotte et al. European journal of endocrinology 2019 Oct
Ethical, Legal and Social Issues (ELSI)
- Establishing a Multi-Country Sickle Cell Disease Registry in Africa: Ethical Considerations.
Munung Nchangwi Syntia et al. Frontiers in genetics 2019 10943
General Practice
- Public reactions to direct-to-consumer genetic health tests: A comparison across the US, UK, Japan and Australia.
Charbonneau Jan et al. European journal of human genetics : EJHG 2019 Oct - Mainstreaming of genomic medicine in gastroenterology, present and future: a nationwide survey of UK gastroenterology trainees.
Al Bakir Ibrahim et al. BMJ open 2019 Oct 9(10) e030505 - Awareness of family health history in a predominantly young adult population.
Madhavan Sarina et al. PloS one 2019 14(10) e0224283 - Cost-effectiveness of precision medicine: a scoping review.
Kasztura Miriam et al. International journal of public health 2019 Oct
Heart, Lung, Blood and Sleep Diseases
- Biomarkers in cardiovascular medicine: towards precision medicine.
Menosi Gualandro Danielle et al. Swiss medical weekly 2019 Oct 149w20125 - Mothers' intentions and behaviours regarding providing risk communication to their daughters about their possibility of being haemophilia carriers: A qualitative study.
Fujii Tomie et al. Haemophilia : the official journal of the World Federation of Hemophilia 2019 Oct - Broad Genetic Testing in a Clinical Setting Uncovers a High Prevalence of Titin Loss-of-Function Variants in Very Early-Onset Atrial Fibrillation.
Goodyer William R et al. Circulation. Genomic and precision medicine 2019 Oct - 'Well, I knew this already' - explaining personal genetic risk information through narrative meaning-making.
Snell Karoliina et al. Sociology of health & illness 2019 Oct - Immunoreactive trypsinogen levels in newborn screened infants with an inconclusive diagnosis of cystic fibrosis.
Ooi Chee Y et al. BMC pediatrics 2019 Oct 19(1) 369 - Role of family history and clinical screening in the identification of families with idiopathic dilated cardiomyopathy in Johannesburg, South Africa.
Bailly C et al. South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 2019 Aug 109(9) 673-678
Newborn Screening
- Implementation of a Targeted Next-Generation Sequencing Panel for Constitutional Newborn Screening in High-Risk Neonates.
Lee Hyunjoo et al. Yonsei medical journal 2019 Nov 60(11) 1061-1066 - Molecular based newborn screening in Germany: Follow-up for cystinosis.
Hohenfellner Katharina et al. Molecular genetics and metabolism reports 2019 Dec 21100514
Pharmacogenomics
- Standardizing CYP2D6 Genotype to Phenotype Translation: Consensus Recommendations from the Clinical Pharmacogenetics Implementation Consortium and Dutch Pharmacogenetics Working Group.
Caudle Kelly E et al. Clinical and translational science 2019 Oct - The future of pharmacogenetics in the treatment of migraine.
Borro Marina et al. Pharmacogenomics 2019 Oct - Pharmacogenomics as a tool to prevent drug-related hospitalization of elderly cardiology-oncology patients receiving chemotherapeutic agents and multiple symptomatic treatments: a pilot study planned for the Italian health system.
Di Francia R et al. European review for medical and pharmacological sciences 2019 Oct 23(19) 8695-8701
Reproductive Health
- Commentary: Expanded carrier screening: how much is too much?
Wapner Ronald J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 21(9) 1927-1930
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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