Human Genomics across the Lifespan
Birth Defects and Child Health
Editorial: Leveraging birth defects surveillance data for health services research.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Cassell CH, Grosse SD, Kirby RS. Birth Defects Res A Clin Mol Teratol. 2014 Nov 5.
Cassell CH, Grosse SD, Kirby RS. Birth Defects Res A Clin Mol Teratol. 2014 Nov 5.
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Caroline F Wright, et al., Lancet, 16 December 2014
Caroline F Wright, et al., Lancet, 16 December 2014
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Al-Qattan SM, et al. Genet Med 2014 Dec
Al-Qattan SM, et al. Genet Med 2014 Dec
Cancer
Breast cancer screening: Benefits and harms.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Jill Jin, JAMA. 2014;312(23):2585.
Jill Jin, JAMA. 2014;312(23):2585.
Breast cancer following ovarian cancer in BRCA mutation carriers![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Alexandra Gangi, et al. JAMA Surgery, December 2014
Alexandra Gangi, et al. JAMA Surgery, December 2014
A single institution experience in compliance with universal screening for Lynch syndrome in colorectal cancer
Hill AL, et al. J Gastrointest Surg 2014 Dec
Hill AL, et al. J Gastrointest Surg 2014 Dec
A stool DNA test (Cologuard) for colorectal cancer screening.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
JAMA. 2014;312(23):2566.
JAMA. 2014;312(23):2566.
Challenges in managing genetic cancer risk: a long-term qualitative study of unaffected women carrying BRCA1/BRCA2 mutations ![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Caiata-Zufferey M, et al. Genet Med 2014 Dec
Caiata-Zufferey M, et al. Genet Med 2014 Dec
Hereditary cancer-associated mutations in women diagnosed with two primary cancers: An opportunity to identify hereditary cancer syndromes after the first cancer diagnosis![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Saam J, et al. Oncology 2014 Dec;88(4):226-33
Saam J, et al. Oncology 2014 Dec;88(4):226-33
Lynch syndrome caused by germline PMS2 mutations: Delineating the cancer risk![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Ten Broeke SW, et al. J Clin Oncol 2014 Dec
Ten Broeke SW, et al. J Clin Oncol 2014 Dec
Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the US Surgeon General's My Family Health Portrait![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
W. Gregory Feero et al. Genet Med, December 18, 2014
W. Gregory Feero et al. Genet Med, December 18, 2014
RAS testing of colorectal carcinoma-a guidance document from the Association of Clinical Pathologists Molecular Pathology and Diagnostics Group![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Wong NA, et al. J Clin Pathol 2014 Sep;67(9):751-7
Wong NA, et al. J Clin Pathol 2014 Sep;67(9):751-7
The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Evans DG, et al. Breast Cancer Res 2014 Sep;16(5):442
Evans DG, et al. Breast Cancer Res 2014 Sep;16(5):442
The changing landscape of genetic testing for hereditary breast and ovarian cancer![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Bellcross CA Curr Probl Cancer 2014 Nov-2014 Dec;38(6):209-15
Bellcross CA Curr Probl Cancer 2014 Nov-2014 Dec;38(6):209-15
The hidden genomic landscape of acute myeloid leukemia: subclonal structure revealed by undetected mutations.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Bodini M, et al. Blood. 2014 Dec 12. pii: blood-2014-05-576157.
Bodini M, et al. Blood. 2014 Dec 12. pii: blood-2014-05-576157.
Translating genomic discoveries to the clinic in pediatric oncology![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Bender JG, et al. Curr Opin Pediatr 2014 Dec
Bender JG, et al. Curr Opin Pediatr 2014 Dec
Valuations of genetic test information for treatable conditions: the case of colorectal cancer screening![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Kilambi V, et al. Value Health 2014 Dec;17(8):838-45
Kilambi V, et al. Value Health 2014 Dec;17(8):838-45
Universal BRCA testing 'would break the bank',
by Roxanne Nelson, Medscape, Dec 15 [by free subscription only]
Chronic Diseases
FDA approves Lynparza to treat advanced ovarian cancer. First LDT companion diagnostic test also approved to identify appropriate patients.
Dec 19
Family history of stroke and cardiovascular health in a national cohort![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Kulshreshtha A, et al. J Stroke Cerebrovasc Dis 2014 Dec
Kulshreshtha A, et al. J Stroke Cerebrovasc Dis 2014 Dec
MicroRNAs in myocardial infarction.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Boon RA, et al. Nat Rev Cardiol. 2014 Dec 16. doi: 10.1038/nrcardio.2014.207.
Boon RA, et al. Nat Rev Cardiol. 2014 Dec 16. doi: 10.1038/nrcardio.2014.207.
Ethics, Policy and Law
Toward a functional definition of a "rare disease" for regulatory authorities and funding agencies![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Clarke JT, et al. Value Health 2014 Dec;17(8):757-61
Clarke JT, et al. Value Health 2014 Dec;17(8):757-61
Ensuring quality in genomic medicine: Amid the rise in complex laboratory-developed tests, regulatory officials are seeking the right balance on quality assurance ![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Nelson B Cancer Cytopathol. 2014 Dec;122(12):855-6.
Nelson B Cancer Cytopathol. 2014 Dec;122(12):855-6.
Ethical perspectives on translational pharmacogenetic research involving children![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Madadi P Paediatr Drugs 2014 Dec
Madadi P Paediatr Drugs 2014 Dec
Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Otten E, et al. Genet Med 2014 Dec
Otten E, et al. Genet Med 2014 Dec
Regulating genetic information--exploring the options in legal theory![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Eur J Health Law 2014 Dec;21(5):425-53
Eur J Health Law 2014 Dec;21(5):425-53
Researchers' views on informed consent for return of secondary results in genomic research![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Appelbaum PS, et al. Genet Med 2014 Dec
Appelbaum PS, et al. Genet Med 2014 Dec
What are some of the ELSI challenges of international collaborations involving biobanks, global sample collection, and genomic data sharing and how should they be addressed?
Dove ES, et al. Biopreserv Biobank 2014 Dec;12(6):363-4
Dove ES, et al. Biopreserv Biobank 2014 Dec;12(6):363-4
Genomics in Practice
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Parikh S, et al. Genet Med 2014 Dec
Parikh S, et al. Genet Med 2014 Dec
Factors affecting the utilization of genetic counseling services among Israeli Arab women![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Sharkia R, et al. Prenat Diagn 2014 Dec
Sharkia R, et al. Prenat Diagn 2014 Dec
Genetic counselors and health literacy: The role of genetic counselors in developing a web-based resource about the Affordable Care Act![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Mann S, et al. J Genet Couns 2014 Dec
Mann S, et al. J Genet Couns 2014 Dec
Genetics educational needs in China: physicians' experience and knowledge of genetic testing![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Li J, et al. Genet Med 2014 Dec
Li J, et al. Genet Med 2014 Dec
Incidence of sickle cell trait — United States, 2010
MMWR December 12, 2014 / 63(49);1155-1158
MMWR December 12, 2014 / 63(49);1155-1158
Provide counseling to family after infant tests positive for sickle cell trait,
Clinical Advisor, Dec 13
Is personalized medicine a panacea for health management? Some thoughts on its desirability![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Antonanzas F, et al. Eur J Health Econ 2014 Dec
Antonanzas F, et al. Eur J Health Econ 2014 Dec
Personalized medicine and genome-based treatments: Why personalized medicine ≠ individualized treatments.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Nicholls SG, Wilson BJ, Castle D, Etchegary H. (Nov 2014) Clinical Ethics.
Nicholls SG, Wilson BJ, Castle D, Etchegary H. (Nov 2014) Clinical Ethics.
The business of genomic testing: a survey of early adopters![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Crawford JM, et al. Genet Med. 2014 Dec;16(12):954-61.
Crawford JM, et al. Genet Med. 2014 Dec;16(12):954-61.
Implementation of clinical genomics: lessons learned,
by Dr Philippa Brice, PHG Foundation, Dec 16
The long and short of genetic counseling summary letters: A case-control study![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Roggenbuck J, et al. J Genet Couns 2014 Dec
Roggenbuck J, et al. J Genet Couns 2014 Dec
The unintended implications of blurring the line between research and clinical care in a genomic age![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Berkman BE, et al. Per Med 2014;11(3):285-95
Berkman BE, et al. Per Med 2014;11(3):285-95
Newborn Screening
Considering whole genome sequencing for newborns,
by Nora Dunne, Bioscience Technology, Dec 18
Newborn bloodspot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Taylor JL, et al. Clin Chem 2014 Dec
Taylor JL, et al. Clin Chem 2014 Dec
Newborn screening for congenital adrenal hyperplasia in New Zealand 1994-2013![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Heather NL, et al. J Clin Endocrinol Metab 2014 Dec:jc20143168
Heather NL, et al. J Clin Endocrinol Metab 2014 Dec:jc20143168
Pharmacogenomics
Guidance for pharmacogenomic biomarker testing in labels of FDA-approved drugs![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Alexandre Vivot et al. Genet Med, December 18, 2014
Alexandre Vivot et al. Genet Med, December 18, 2014
Reproductive Health
Current controversies in prenatal diagnosis 2: prediction and prevention of adverse pregnancy outcomes requires a genomic rather than proteomic solution.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Chiu RW, et al., Prenat Diagn. 2014 Nov 13.
Chiu RW, et al., Prenat Diagn. 2014 Nov 13.
Prenatal testing: When a result is not a diagnosis,
by KJ Dell'Antonia, New York Times Blog Post, Dec 15
Reviews, News and Commentaries
A beleaguered family — 12 in 4 generations diagnosed with cancer, so far,
by Doug Robinson, Deseret News, Dec 27
Researchers examine supercentenarians' genomes for longevity key,
by Brooke Wolford, National Human Genome Research Institute, December 2014
Patients’ expectations of the benefits and harms of treatments, screening, and tests: A systematic review.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Tammy C. Hoffmann, JAMA Internal Medicine, December 22, 2014
Tammy C. Hoffmann, JAMA Internal Medicine, December 22, 2014
Commercial DNA testing may cause harm, scientific studies show (if you read through to the study limitations at the end),
by Cecile Janssenns, Huffington Post, Dec 22
NHS Genomic Medicine Centres announced for 100,000 Genomes Project,
Genomics UK, Dec 22
First NHS Genomic Medicine Centres announced,
by Dr Philippa Brice, Dec 22
Personalized medicine: Where are we now, what comes next?
By Susan Rafizadeh, SAP Business News, December 2014
Top ten genetics stories for 2014: Incredible achievements (don’t come cheap)
by Laura Hercher, DNA Exchange, Dec 19
What happens after you get that mammogram,
by N. Shute, NPR News, Dec 17
A family's long search for Fragile X drug finds frustration, hope,
by Jon Hamilton, NPR News, Dec 22
Survivorship bias and genetics,
by Ken Weiss , Mermaid Tale Blog Post, Dec 19
Omics and the bioeconomy. Applications of genomics hold great potential for a future bio‐based economy and sustainable development.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Gerardo Jiménez‐Sánchez et al. EMBO Press, December 2014
Gerardo Jiménez‐Sánchez et al. EMBO Press, December 2014
Programme for genetic diagnosis of rare diseases proves feasible for routine clinical practice![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
BMJ 2014;349:g7781
BMJ 2014;349:g7781
Getting to know you,
by Anna Middleton, Sanger Institute, Dec 17
Genetic counsellors and genomic counselling,
by Anna Middleton, Genomethics, Dec 17
Geneticists begin tests of an internet for DNA,
by Antonio Regalado, MIT Technology Review, Dec 17
How exercise changes our DNA,
by Gretchen Reynolds, New York Times, Dec 17
4 Rays of hope for 'precision' cancer therapies,
by DJ Cornwall, Huffington Post, Dec 16
Genome sequencing: Exploring the diagnostic promise,
by Dr. Francis Collins, NIH, Dec 16
What rare disorder is hiding in your DNA?
By Dina Fine Maron, Scientific American, Dec 16
Genomics & the psychology of the rare disease 'diagnostic odyssey',
by Yoni Maisel, CVID, Primary Immune and Rare Diseases Blog, Dec 16
ALS Association announces research funds to further understand genetic cause of ALS,
Medical News Today, Dec 14
The new BRCA1/2 landscape,
by Jane de Lartigue, Onc Live, Dec 13
NIH funds centers to investigate genetic, other risk factors for sudden death in epilepsy,
Genome Web, Dec 12 [by free subscription only]
Don’t homogenize health care,
by S Jauhar, New York Times, Dec 10
Have a health history heart to heart,
the Cleveland Clinic, Dec 10
The real cost of sequencing in 2014,
by James Hadfield, BiteSize Bio, Dec 5
By studying how genes and nutrients interact, scientists are looking for ways to use DNA-based diets as a prescription to improve health and prevent disease,
by Kendall K. Morgan, Genome Magazine, December 2014
Citizen scientists unite,
by Heather Millar, Genome Mag, Nov 24
Tools and Databases
A systematic appraisal of field synopses in genetic epidemiology: A HuGE review![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Belbasis L, et al. Am J Epidemiol 2014 Dec
Belbasis L, et al. Am J Epidemiol 2014 Dec
Orphanet:
The portal for rare diseases and orphan drugs
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