Genomics|Update|Non Communicable Diseases: Human Genomics across the Lifespan

Genomics|Update|Non Communicable Diseases

Human Genomics across the Lifespan

• Birth Defects & Child Health
• Cancer
• Chronic Diseases
• Ethics, Policy & Law
• Genomics in Practice

• Newborn Screening
• Pharmacogenomics
• Reviews, News & Commentaries
• Tools & Databases

Birth Defects and Child Health

Editorial: Leveraging birth defects surveillance data for health services research.
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
Caroline F Wright, et al., Lancet, 16 December 2014

The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population
Al-Qattan SM, et al. Genet Med 2014 Dec

Genetic testing for developmental disabilities, intellectual disability and autism spectrum disorders,AHRQ

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Cancer

Breast cancer screening: Benefits and harms.
Jill Jin,  JAMA. 2014;312(23):2585.

Breast cancer following ovarian cancer in BRCA mutation carriers
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

A stool DNA test (Cologuard) for colorectal cancer screening.
JAMA. 2014;312(23):2566.

Challenges in managing genetic cancer risk: a long-term qualitative study of unaffected women carrying BRCA1/BRCA2 mutations 
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
Saam J, et al. Oncology 2014 Dec;88(4):226-33

Lynch syndrome caused by germline PMS2 mutations: Delineating the cancer risk
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
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
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
Evans DG, et al. Breast Cancer Res 2014 Sep;16(5):442

The changing landscape of genetic testing for hereditary breast and ovarian cancer
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.
Bodini M, et al. Blood. 2014 Dec 12. pii: blood-2014-05-576157.

Translating genomic discoveries to the clinic in pediatric oncology
Bender JG, et al. Curr Opin Pediatr 2014 Dec

Valuations of genetic test information for treatable conditions: the case of colorectal cancer screening
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]

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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
Kulshreshtha A, et al. J Stroke Cerebrovasc Dis 2014 Dec

MicroRNAs in myocardial infarction.
Boon RA, et al. Nat Rev Cardiol. 2014 Dec 16. doi: 10.1038/nrcardio.2014.207.

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Ethics, Policy and Law

Toward a functional definition of a "rare disease" for regulatory authorities and funding agencies
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 
Nelson B Cancer Cytopathol. 2014 Dec;122(12):855-6.

Ethical perspectives on translational pharmacogenetic research involving children
Madadi P Paediatr Drugs 2014 Dec

Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature
Otten E, et al. Genet Med 2014 Dec

Regulating genetic information--exploring the options in legal theory
Eur J Health Law 2014 Dec;21(5):425-53

Researchers' views on informed consent for return of secondary results in genomic research
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

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Genomics in Practice

Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
Parikh S, et al. Genet Med 2014 Dec

Factors affecting the utilization of genetic counseling services among Israeli Arab women
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
Mann S, et al. J Genet Couns 2014 Dec

Genetics educational needs in China: physicians' experience and knowledge of genetic testing
Li J, et al. Genet Med 2014 Dec

Incidence of sickle cell trait — United States, 2010
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
Antonanzas F, et al. Eur J Health Econ 2014 Dec

Personalized medicine and genome-based treatments: Why personalized medicine ≠ individualized treatments.
Nicholls SG, Wilson BJ, Castle D, Etchegary H. (Nov 2014) Clinical Ethics.

The business of genomic testing: a survey of early adopters
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
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
Berkman BE, et al. Per Med 2014;11(3):285-95

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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
Taylor JL, et al. Clin Chem 2014 Dec

Newborn screening for congenital adrenal hyperplasia in New Zealand 1994-2013
Heather NL, et al. J Clin Endocrinol Metab 2014 Dec:jc20143168

Diagnostic guidelines for confirmation of screen-positive newborn screening results,  [PDF 991.66 KB] NYMAC, Sep 2014

FDA allows marketing of the first newborn screening test to help detect Severe Combined Immunodeficiency, FDA, Dec 15

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Pharmacogenomics

Guidance for pharmacogenomic biomarker testing in labels of FDA-approved drugs
Alexandre Vivot et al. Genet Med, December 18, 2014 

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Reproductive Health

Current controversies in prenatal diagnosis 2: prediction and prevention of adverse pregnancy outcomes requires a genomic rather than proteomic solution.
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

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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.
Tammy C. Hoffmann,  JAMA Internal Medicine, December 22, 2014

NIH Research Matters 2014 research highlights include several genomic stories, 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.
Gerardo Jiménez‐Sánchez et al. EMBO Press, December 2014

Programme for genetic diagnosis of rare diseases proves feasible for routine clinical practice
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

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Tools and Databases

A systematic appraisal of field synopses in genetic epidemiology: A HuGE review
Belbasis L, et al. Am J Epidemiol 2014 Dec

Orphanet: The portal for rare diseases and orphan drugs