Publication Date: Jan 26, 2017
About the Genomics & Health Impact Weekly Scan
This weekly update features emerging roles of human genomics, testing and interventions in a wide variety of noncommunicable diseases across the life span, including, birth defects, newborn screening, reproductive health, childhood diseases, cancer, chronic diseases, pharmacogenomics, family health history, guidelines and recommendations. The weekly sweep also includes news, reviews, commentaries, tools and databases.
Human Genomics across the Lifespan
Birth Defects and Child Health
- Family’s struggle with Batten disease mirrors the journey of others fighting rare diseases
Denver Post, January 20, 2017 - Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches.
Richardson Rose et al. European journal of human genetics : EJHG 2017 Jan - Clinical Practice Guidelines for Rare Diseases: The Orphanet Database.
Pavan Sonia et al. PloS one 2017 12(1) e0170365 - Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes.
Muramatsu Hideki et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jan - Prevalence and architecture of de novo mutations in developmental disorders
Deciphering Developmental Disorders Study, Nature, January 25, 2017 - Child gene study identifies new developmental disorders
F Walsh, BBC, January 25, 2017
Cancer
- Family history of breast cancer, breast density, and breast cancer risk in a U.S. breast cancer screening population.
Ahern Thomas P et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2017 Jan - Anxiety and depression symptoms among women attending group-based patient education courses for hereditary breast and ovarian cancer.
Listøl Wenche et al. Hereditary cancer in clinical practice 2017 152 - Gene editing has saved the lives of two children with leukaemia
New Scientist, January 25, 2017 - Less Than Half of Recommended Adults Screened for Lynch Syndrome,
Fox Chase Cancer Center, January 20, 2017 - Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes.
Guidugli L et al. Leukemia 2017 Jan - Validation of a clinical screening instrument for tumour predisposition syndromes in patients with childhood cancer (TuPS): protocol for a prospective, observational, multicentre study.
Postema Floor A M et al. BMJ open 2017 Jan 7(1) e013237 - Cancer Risk Information Sharing: The Experience of Individuals Receiving Genetic Counseling for BRCA1/2 Mutations.
Chopra Ishveen et al. Journal of health communication 2017 Jan 1-10 - The Use of Social Media to Recruit Participants With Rare Conditions: Lynch Syndrome as an Example.
Burton-Chase Allison M et al. JMIR research protocols 2017 Jan 6(1) e12 - Genomic Profiling of Thyroid Nodules: Current Role for ThyroSeq Next-Generation Sequencing on Clinical Decision-Making.
Kargi Atil Y et al. Molecular imaging and radionuclide therapy 2016 Jan 26(Suppl 1) 24-35 - Molecular Profiling of Thyroid Nodules: Current Role for the Afirma Gene Expression Classifier on Clinical Decision Making.
Kloos Richard T et al. Molecular imaging and radionuclide therapy 2016 Jan 26(Suppl 1) 36-49 - Hereditary Thyroid Cancer: Part I
My Gene Counsel, January 24, 2017 - Virtues and Weaknesses of DNA Methylation as a Test for Cervical Cancer Prevention.
Lorincz Attila T et al. Acta cytologica 2016 60(6) 501-512 - "Angelina Jolie Effect”: What Should I Know About Hereditary Cancer and Testing?
E Ramos, National Society of Genetics Counselors Blog, January 2017 - New Genomic Study Provides In-Depth Characterization of Cervical Cancer
Clinical Omics, January 24, 2017 - What Precisely Is Precision Oncology—and Will It Work?
V Prasad et al, ASCO Post, January 25, 2017 - Frequency of Thyroid Carcinoma in Brazilian TP53 p.R337H Carriers With Li Fraumeni Syndrome.
Formiga Maria Nirvana da Cruz et al. JAMA oncology 2017 Jan - The Role of BRCA2 Mutation Status as Diagnostic, Predictive, and Prognosis Biomarker for Pancreatic Cancer.
Martinez-Useros Javier et al. BioMed research international 2016 20161869304 - Medical Oncologists' Experiences in Using Genomic Testing for Lung and Colorectal Cancer Care.
Gray Stacy W et al. Journal of oncology practice 2017 Jan JOP2016016659 - Familial non-medullary thyroid cancer: unraveling the genetic maze.
Peiling Yang Samantha et al. Endocrine-related cancer 2016 Dec 23(12) R577-R595 - Comparison of Prevalence and Types of Mutations in Lung Cancers Among Black and White Populations.
Campbell Joshua D et al. JAMA oncology 2017 Jan - Li-Fraumeni syndrome: a paradigm for the understanding of hereditary cancer predisposition.
Valdez Jessica M et al. British journal of haematology 2016 Dec - Large, Prospective Analysis of the Reasons Patients Do Not Pursue BRCA Genetic Testing Following Genetic Counseling.
Hayden Sommer et al. Journal of genetic counseling 2017 Jan
Chronic Diseases
- Postmortem Genetic Testing for Sudden Unexpected Death-Reply.
Torkamani Ali et al. JAMA 2017 Jan 317(3) 321 - Postmortem Genetic Testing for Sudden Unexpected Death.
Schrodi Steven J et al. JAMA 2017 Jan 317(3) 320-321 - Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.
Bierzynska Agnieszka et al. Kidney international 2017 Jan - DNA methylation and alcohol use disorders: Progress and challenges.
Zhang Huiping et al. The American journal on addictions 2016 Oct - The genetics of alcohol dependence and alcohol-related liver disease.
Stickel Felix et al. Journal of hepatology 2017 Jan 66(1) 195-211
Ethics, Policy and Law
- Whose Biobank? Should Biobanks Serve Research Interests or the Needs for Personalized Medicine? Analysis of the Hungarian Law.
Sándor Judit et al. Genetic testing and molecular biomarkers 2017 Jan
Genomics in Practice
- Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement
Z Stark et al, Genetics in Medicine, January 26, 2017 - How lay people understand and make sense of personalized disease risk information.
Damman Olga C et al. Health expectations : an international journal of public participation in health care and health policy 2017 Jan - Conflicts of interest in genetic counseling: acknowledging and accepting
KA Stoll et al, Genetics in Medicine, January 26, 2017 - Non-coding RNA
Epigenetics Literacy Project, January 2017 - Genome editing in clinical genetics: points to consider—a statement of the American College of Medical Genetics and Genomics
American College of Medical Genetics and Genomics, January 26, 2017 - Non-European populations still underrepresented in genomic testing samples: Dearth of African-American, Latino, and other non-European groups contributes to healthcare, research disparities.
et al. American journal of medical genetics. Part A 2017 Feb 173(2) 296-297 - Young Adults' Belief in Genetic Determinism, and Knowledge and Attitudes towards Modern Genetics and Genomics: The PUGGS Questionnaire.
Carver Rebecca Bruu et al. PloS one 2017 12(1) e0169808 - Assessing family history of chronic disease in primary care: Prevalence, documentation, and appropriate screening.
Carroll June C et al. Canadian family physician Medecin de famille canadien 2017 Jan 63(1) e58-e67 - Evaluating Precision Medicine's Ability to Improve Population Health-Reply.
Khoury Muin J et al. JAMA 2017 Jan 317(4) 441 - Performance Ratio Based Resource Allocation Decision-Making in Genomic Medicine.
Fragoulakis Vasilios et al. Omics : a journal of integrative biology 2017 Jan - Utilization of genetic tests: analysis of gene-specific billing in Medicare claims data
JA Lynch et al, Genetics in Medicine, January 26, 2017 - Improving Utilization of the Family History in the Electronic Health Record.
Hickey Kathleen T et al. Journal of nursing scholarship : an official publication of Sigma Theta Tau International Honor Society of Nursing 2017 Jan 49(1) 80-86
Cardiovascular Diseases
- Pharmacogenomic challenges in cardiovascular diseases: examples of drugs and considerations for future integration in clinical practice.
Chatelin Jérôme et al. Current pharmaceutical biotechnology 2017 Jan - Cost-effectiveness of cytochrome P450 2C19 *2 genotype-guided selection of clopidogrel or ticagrelor in Chinese patients with acute coronary syndrome.
Wang Y et al. The pharmacogenomics journal 2017 Jan - Moving Beyond Clinical Risk Scores with a Mobile App for the Genomic Risk of Coronary Artery Disease
ED Muse et al, BioRXIV preprints, January 2017
Pharmacogenomics
- Implementing Genomic Clinical Decision Support for Drug-Based Precision Medicine.
Freimuth Robert R et al. CPT: pharmacometrics & systems pharmacology 2017 Jan - Pharmacogenomics testing in a community pharmacy: patient perceptions and willingness-to-pay.
Gibson Mara L et al. Pharmacogenomics 2017 Jan - A nationwide survey of pharmacists' perception of pharmacogenetics in the context of a clinical decision support system containing pharmacogenetics dosing recommendations.
Bank Paul Cd et al. Pharmacogenomics 2017 Jan - The role of pharmacogenetics in the new ESMO colorectal cancer guidelines.
Schirripa Marta et al. Pharmacogenomics 2017 Jan
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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