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.
Health Impact Weekly Scan
Human Genomics across the Lifespan
Birth Defects and Child Health
- Parents' attitudes toward genetic research in autism spectrum disorder.
Johannessen Jarle et al. Psychiatric genetics 2016 Feb - Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders.
Rosell Allyn McConkie et al. Journal of genetic counseling 2016 Feb
Cancer
- More Young Women With Breast Cancer Are Undergoing Genetic Testing, Study Finds,
Genome Web, February 11, 2016 [by free subscription only] - The Role of Risk-Reducing Surgery in Hereditary Breast and Ovarian Cancer.
Hartmann Lynn C et al. The New England journal of medicine 2016 Feb 374(5) 454-68 - Yield of screening colonoscopy in first-degree relatives of patients with serrated polyposis syndrome.
Hazewinkel Yark et al. Journal of clinical gastroenterology 49(5) 407-12 - Observational Study: Familial Relevance and Oncological Significance of Revised Bethesda Guidelines in Colorectal Patients That Have Undergone Curative Resection.
Jung Won Beom et al. Medicine 2016 Feb 95(6) e2723 - Lynch Syndrome Screening in the Gynecologic Tract: Current State of the Art.
Mills Anne M et al. The American journal of surgical pathology 2016 Feb - BRCA1 and BRCA2 Mutation Testing in Young Women With Breast Cancer.
Rosenberg Shoshana M et al. JAMA oncology 2016 Feb - Familial Risk in Patients With Carcinoma of Unknown Primary.
Samadder N Jewel et al. JAMA oncology 2015 Dec 1-7 - Evaluation of laboratory perspectives on hereditary cancer panels.
Stoll Jessica et al. Familial cancer 2016 Feb - Increased Reach of Genetic Cancer Risk Assessment as a Tool for Precision Management of Hereditary Breast Cancer.
Blazer Kathleen R et al. JAMA oncology 2016 Feb - Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses.
Haraldsdottir Sigurdis et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Feb - BRCA1 and BRCA2 Mutation Testing in Young Women With Breast Cancer
JAMA Oncology, February 11, 2016 - Precision Oncology: The UC San Diego Moores Cancer Center PREDICT Experience
Schwaederle M, et al. Molecular Cancer Therapeutics 2016 Feb 6 - Implementation of the 21-gene recurrence score test in the United States in 2011
Lynch JA, et al. Genetics in Medicine (2016) Feb 18 - Prediction of Cancer Prevention: From Mammogram Screening to Identification of BRCA1/2 Mutation Carriers in Underserved Populations.
Robinson Linda S et al. EBioMedicine 2015 Nov 2(11) 1827-33 - An Eighteen-Gene Classifier Predicts Local/Regional Recurrence in Post-Mastectomy Breast Cancer Patients
Cheng SH, et al. ebiom.2016.02.022 - Oncologists' and cancer patients' views on whole-exome sequencing and incidental findings: results from the CanSeq study.
Gray Stacy W et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Feb - Characterizing Molecular Variants and Clinical Utilization of Next-generation Sequencing in Advanced Breast Cancer.
Gurda Grzegorz T et al. Applied immunohistochemistry & molecular morphology : AIMM / official publication of the Society for Applied Immunohistochemistry 2016 Feb
Genomics in Practice
- The Geisinger MyCode community health initiative: an electronic health record-linked biobank for precision medicine research.
Carey David J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Feb - Regional Support Service Model Workgroup Draft Recommendation Brief
- Effective quality management practices in routine clinical next-generation sequencing.
de Abreu Francine B et al. Clinical chemistry and laboratory medicine 2016 Feb - Improving the informed consent process in international collaborative rare disease research: effective consent for effective research.
Gainotti Sabina et al. European journal of human genetics : EJHG 2016 Feb - Was it worth it? Patients' perspectives on the perceived value of genomic-based individualized medicine.
Halverson Colin Me et al. Journal of community genetics 2016 Feb
Cardiovascular Diseases
- Management of Familial Hypercholesterolemia in Hong Kong.
Hu Miao et al. Journal of atherosclerosis and thrombosis 2016 Feb - Improving the cost-effectiveness equation of cascade testing for familial hypercholesterolaemia.
Pears Robert et al. Current opinion in lipidology 2015 Jun 26(3) 162-8 - A new electronic screening tool for identifying risk of familial hypercholesterolaemia in general practice.
Troeung Lakkhina et al. Heart (British Cardiac Society) 2016 Feb
Newborn Screening
- Advisory Committee on Heritable Disorders in Newborns and Children. Secretarial Responses Regarding the Committee's Recommendations to add Adrenoleukodystrophy (X-ALD)[PDF 137 KB]
- Secretary of Health and Human Services accepts the recommendation to expand the Recommended Uniform Screening Panel to include X-ALD and MPS I
Web Wire, February 18, 2016 - Advisory Committee on Heritable Disorders in Newborns and Children. Secretarial Responses Regarding the Committee's Recommendations to add Mucopolysaccharidosis Type I[PDF 159 KB]
- Cost-Effectiveness/Cost-Benefit Analysis of Newborn Screening for Severe Combined Immune Deficiency in Washington State.
Ding Yao et al. The Journal of pediatrics 2016 Feb
Reproductive Health
- The Effect of Different Information Sources on the Anxiety Level of Pregnant Women who Underwent Invasive Prenatal Testing.
Çakar Mehmet et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2016 Feb 1-11
Pharmacogenomics
- Perceptions of pharmacogenetic research to guide tobacco cessation by patients, providers and leaders in a tribal healthcare setting.
Avey Jaedon P et al. Pharmacogenomics 2016 Feb
News/Reviews/Commentaries
- A New Tool in the Toolbox: New Method Traces Free-Floating DNA Back to Its Source,
by Francis Collins, NIH Director's Blog, February 16, 2016 - A husband and wife’s race to cure her fatal genetic disease,
by Kathleen Burge, Boston Globe, February 17, 2016 - Consumers aren’t wild about genetic testing — nor are doctors,
by Sharon Begley, Stat, February 12, 2016 - Measuring the Utility of Genomic Medicine,
by Jeffrey S. Buguliskis, Ph.D., GEN, February 11, 2016 - Beyond three-parent babies: New drugs offer hope for mitochondrial disease,
by Elie Dolgin, STAT, February 11, 2016 - Mutated genes don’t always lead to genetic diseases,
by Meredith Knight, Genetic Literacy Project, February 10, 2016 - Precision Medicine: From Double Helix to Health Care,
by Jeff Briggs, Mayo Clinic, February 16, 2016 - Back to Earth - Success against cancer need not deliver the Moon,
Nature News, February 17, 2016 - Precision Medicine: From Double Helix to Health Care,
by Jeffrey Briggs, Mayo Clinic, February 15, 2016 - How Rare is a Rare Disease?
By Melissa A. Wilson Sayres, EvMed Blog, February 11, 2016 - Human Complex Trait Genetics in the 21st Century
Peter M. Visscher, Genetics, February 11, 2016 vol. 202 no. 2 377-379 - Next-Generation Sequencing: Targeted Panels Versus Whole Exome Sequencing,
by Jeffrey Briggs, Mayo Clinic, February 11, 2016 - More young breast cancer patients having genetic tests,
by Kathryn Doyle, Reuters, February 18, 2016 - Why all identical twins are not identically obese,
by Ben Locwin, Genetic Literacy Project, February 11, 2016 - Medicare Contractor Issues Local Coverage Decision on Genomic Sequencing Panels,
Genome Web, February 16, 2016 [by free subscription only] - More than 'Angelina Jolie Effect': BRCA tests spike among breast cancer patients,
by Bill Briggs, Fred Hutch News Service, February 11, 2016 - DNA tags help the hunt for drugs
Mullard A; Nature 530, 367?369 (18 February 2016)
CDC-Authored Genomics Publications
- Molecular Epidemiology and Transmission Dynamics of Recent and Long-Term HIV-1 Infections in Rural Western Kenya.
Zeh Clement, Inzaule Seth C, Ondoa Pascale, Nafisa Lillian G, Kasembeli Alex, Otieno Fredrick, Vandenhoudt Hilde, Amornkul Pauli N, Mills Lisa A, Nkengasong John N PloS one 2016 0 0. (2) e0147436. - Hepatitis C Virus Subtype and Evolution Characteristic Among Drug Users, Men Who Have Sex With Men, and the General Population in Beijing, China.
Jiao Yang, Zhang Xiaoxi, Wang Chen, Li Li, Liu Jie, Bar Katharine J, Wei Huamian, Hu Yao, Huang Ping, Zeng Zhaoli, Jiang Shulin, Du Jialiang, Shao Yiming, Metzger David, Li Shuming, Ma Liying Medicine 2016 2 0. (6) e2688. - Phylogenetic Analysis of Chikungunya Virus Strains Circulating in the Western Hemisphere.
Lanciotti Robert S, Lambert Amy J The American journal of tropical medicine and hygiene 2016 2 0. . - Haematospirillum jordaniae gen. nov., sp. nov., isolated from human blood samples.
Humrighouse B W, Emery B D, Kelly A J, Metcalfe M G, Mbizo J, McQuiston J R Antonie van Leeuwenhoek 2016 2 0. . - Two Distinct Yersinia pestis Populations Causing Plague among Humans in the West Nile Region of Uganda.
Respicio-Kingry Laurel B, Yockey Brook M, Acayo Sarah, Kaggwa John, Apangu Titus, Kugeler Kiersten J, Eisen Rebecca J, Griffith Kevin S, Mead Paul S, Schriefer Martin E, Petersen Jeannine M PLoS neglected tropical diseases 2016 2 0. (2) e0004360.
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