Published on 04/15/2015
Human Genomics across the Lifespan
Birth Defects and Child Health
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Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.
Kang Peter B et al. Neurology 2015 Mar 31. 84(13) 1369-78
Cancer
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Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.
Rebbeck Timothy R, et al. JAMA 2015 4 0. (13) 1347-61 -
Concerns about cancer risk and experiences with genetic testing in a diverse population of patients with breast cancer.
Jagsi Reshma, et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2015 5 0. (14) 1584-91 -
Are women willing to change breast cancer screening guidelines?
Cohn W et al. Cancer Epidemiol. Biomarkers Prev. 2015 Apr 24(4) 765 -
Decision Making about Contralateral Prophylactic Mastectomy Among BRCA1/2 Noncarriers with Newly-diagnosed Breast Cancer: Examining Cognitive, Emotional, and Sociodemographic Influences.
Hamilton J G et al. Cancer Epidemiol. Biomarkers Prev. 2015 Apr 24(4) 760 -
Evaluating the clinical impact of a genomic classifier in prostate cancer using individualized decision analysis.
Lobo Jennifer Mason et al. PLoS ONE 2015 10(3) e0116866 -
Factors Affecting Informed Decision-Making in Women with Increased Breast Cancer Risk or DCIS Pursuing Contralateral Prophylactic Mastectomy.
Valente J et al. Cancer Epidemiol. Biomarkers Prev. 2015 Apr 24(4) 761 -
Factors Associated With Guideline-recommended KRAS Testing in Colorectal Cancer Patients: A Population-based Study.
Charlton Mary E et al. Am. J. Clin. Oncol. 2015 Apr 1. -
Implementation and outcomes of telephone disclosure of clinical BRCA1/2 test results.
Patrick-Miller Linda et al. Patient Educ Couns 2013 Dec 93(3) 413-9 -
Five Years of Cancer Drug Approvals: Innovation, Efficacy, and Costs.
Mailankody Sham, et al. JAMA oncology 2015 7 0. (4) 539-40 -
Participation of Korean families at high risk for hereditary breast and ovarian cancer in BRCA1/2 genetic testing.
Sun Young et al. Jpn. J. Clin. Oncol. 2015 Apr 2. -
Patient feedback and early outcome data with a novel tiered-binned model for multiplex breast cancer susceptibility testing.
Bradbury Angela R et al. Genet. Med. 2015 Apr 2. -
When to consider referral to a genetic counselor for lesser known cancer syndromes
Heydrich CE, et al. Contemporary Oncology 2015 Apr 5
Chronic Disease
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Uptake of Genetic Counseling, Knowledge of Bleeding risks and Psychosocial Impact in a South African Cohort of Female Relatives of People with Hemophilia.
Gillham Anne et al. J Genet Couns 2015 Apr 2. -
Patient Beliefs and Behaviors About Genomic Risk for Type 2 Diabetes: Implications for Prevention.
Gallagher Patrick et al. J Health Commun 2015 Apr 6. 1-8 -
Searching for the Kinkeepers: Historian Gender, Age, and Type 2 Diabetes Family History.
Giordimaina Alicia M et al. Health Educ Behav 2015 Apr 4.
Ethics/Policy/Law
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Disclosing genetic information to at-risk relatives: new Australian privacy principles, but uniformity still elusive.
Otlowski Margaret F A et al. Med. J. Aust. 2015 Apr 6. 202(6) 335-7 -
Overcoming challenges to meaningful informed consent for whole genome sequencing in pediatric cancer research.
Oberg Jennifer A et al. Pediatr Blood Cancer 2015 Apr 1.
Practice
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An atlas of genetic correlations across human diseases and traits
Brendan Bulik-Sullivan, et al. bioRxiv 2015 Apr 6 -
Key emerging themes for assessing the cost-effectiveness of reporting incidental findings.
Phillips Kathryn A et al. Genet. Med. 2015 Apr 17(4) 314-5 -
Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes.
Jang Mi-Ae, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2015 12 0. (12) 1007-11 -
Translating rare-disease therapies into improved care for patients and families: what are the right outcomes, designs, and engagement approaches in health-systems research?
Potter Beth K, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 2 0. (2) 117-23
Newborn Screening
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Systematic neonatal screening for severe combined immunodeficiency and severe T-cell lymphopenia: Analysis of cost-effectiveness based on French real field data.
Clément Marie Caroline et al. J. Allergy Clin. Immunol. 2015 Apr 1. -
Benign outcome among positive cystic fibrosis newborn screen children with non-CF-causing variants.
Salinas Danieli Barino et al. J. Cyst. Fibros. 2015 Mar 28. -
Implementation of newborn screening for hemoglobin h disease in mainland china.
Xie Xing-Mei et al. Indian J Hematol Blood Transfus 2015 Jun 31(2) 242-6
Pharmacogenomics
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Evaluation of a shared pharmacogenomics curriculum for pharmacy students.
Lee Kelly C et al. Pharmacogenomics 2015 Mar 16(4) 315-22
Reproductive Health
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Is maternal plasma DNA testing impacting serum-based screening for aneuploidy in the United States?
Palomaki Glenn E, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2015 11 0. (11) 897-900 -
Publications and operational guidance:1 April 2015 - updated guidance for health professionals,
NHS Fetal Anomaly Screening Programme -
Accurate Description of DNA-Based Noninvasive Prenatal Screening.
Cheung Sau W et al. N. Engl. J. Med. 2015 Apr 1. -
Non-Invasive Prenatal Screening for Aneuploidy: Positive Predictive Values Based on Cytogenetic Findings.
Meck Jeanne M et al. Am. J. Obstet. Gynecol. 2015 Apr 3. -
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations.
Dondorp Wybo et al. Eur. J. Hum. Genet. 2015 Apr 1.
News/ Reviews/Comments
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Autism Spectrum Disorder: The special bond between siblings,
by Cynthia Moore, HHS Blog, Apr 2 -
Cancer and the microbiota.
Garrett Wendy S et al. Science 2015 Apr 3. 348(6230) 80-6 -
What are we talking about when we talk about population health?
By David Kindig, Health Affairs Blog, Apr 6 -
Studying ebola survivors,
by Amanda B. Keener, The Scientist, Apr 6 -
FDA okays first direct-to-consumer genetic test
Rita Rubin, MA JAMA. 2015;313(13):1306. -
Researchers develop genetic breast cancer screening,
by Mark Huffman, Consumer Affairs, Apr 7 -
A third of breast cancer patients concerned about genetic risk,
Medical Xpress, Apr 6 -
Cancer and genetic data,
the New York Times, Apr 1 -
Core services: Reward bioinformaticians.
Chang Jeffrey, et al. Nature 2015 4 0. (7546) 151-2 -
Genetic screening could improve breast cancer prevention,
University Cambridge, Apr 9 -
Key elements for nourishing the translational research environment.
Volk Hans-Dieter, et al. Science translational medicine 2015 4 0. (282) 282cm2 -
Breast cancer risk test devised in 77-gene analysis,
by James Gallagher, BBC News, Apr 9 -
Circulating tumor DNA in blood can predict recurrence of the most common type of lymphoma,
NIH News, Apr 2 -
Facing death as a teenager,
Lens Blog, New York Times, Apr 5 -
Would I have the genome of my baby sequenced?
New Scientist, Apr 9 -
State of the nation: decoding the Icelandic genome,
Genomics Education Programme, Apr 2 -
Of microbes, molecules, and maps,
by Francis Collins, NIH Director?s Blog, Apr 9