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

Genomics|Update|Non Communicable Diseases

Volume 34  Number 24  June 18-25, 2015

Human Genomics across the Lifespan

• Cancer
• Chronic Diseases
• Ethics, Policy & Law
• Genomics in Practice
• Guidelines & Recommendations

• Newborn Screening
• Pharmacogenomics
• Reproductive Health
• Reviews, News & Commentaries

Cancer

A validated model for identifying patients unlikely to benefit from the 21-gene recurrence score assay.
Gage MM et al. Clin. Breast Cancer 2015 Apr 23.

Accuracy of hereditary diffuse gastric cancer testing criteria and outcomes in patients with a germline mutation in CDH1.
van der Post RS et al. Gastroenterology 2015 Jun 10.

Association of somatic mutations of ADAMTS genes with chemotherapy sensitivity and survival in high-grade serous ovarian carcinoma
Liu Y, et al. JAMA Oncology 2015 June 15

Ovarian cancers sensitive to chemo identified by gene mutations, Medical News Today, June 15

Colorectal cancer screening in a low-incidence area: general invitation versus family risk targeting: a comparative study from Montenegro.
Panic N et al. Eur J Gastroenterol Hepatol 2015 Jun 9.

Do health professionals need additional competencies for stratified cancer prevention based on genetic risk profiling?
Chowdhury S et al. J Pers Med 2015 5(2) 191-212

Multigene panel testing in oncology practice
Kurian AW, et al. JAMA Oncol. 2015;1(3):277-278

Pedican: an online gene resource for pediatric cancers with literature evidence.
Zhao Min et al. Sci Rep 2015 511435

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Chronic Diseases

Perception of young adults with sickle cell disease or sickle cell trait about participation in the CHOICES randomized controlled trial.
Hershberger PE et al. J Adv Nurs 2015 Jun 15.

The extent of familial hypercholesterolemia instruction in US schools and colleges of medicine, pharmacy, and osteopathic medicine.
Withycombe B et al. J Clin Lipidol 9(3) 281-8

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Ethics, Policy and Law

Germline genome-editing research and its socioethical implications.
Ishii T et al. Trends Mol Med 2015 Jun 9.

Breast cancer gene: High Court to hear whether Myriad Genetics' gene patent stands, by Elizabeth Byrne, ABC News, June 15

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Genomics in Practice

Clinical application of next-generation sequencing for Mendelian diseases.
Jamuar Saumya Shekhar et al. Hum. Genomics 2015 Jun 16. 9(1) 10

Genetic information and biobanking: a Brazilian perspective on biological and biographical issues.
Fernandes Márcia Santana et al. J Community Genet 2015 Jun 13.

Genetic ME-a visualization application for merging and editing pedigrees for genetic studies.
Bui Diem K et al. BMC Res Notes 2015 Jun 16. 8(1) 241

Informing the design of direct-to-consumer interactive personal genomics reports.
Shaer O et al. J. Med. Internet Res. 2015 17(6) e146

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Guidelines & Recommendations

The current role of next-generation DNA sequencing in routine care of patients with hereditary cardiovascular conditions: a viewpoint paper of the European Society of Cardiology working group on myocardial and pericardial diseases and members of the European Society of Human Genetics.
Mogensen J et al. Eur. Heart J. 2015 Jun 7. 36(22) 1367-1370

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Newborn Screening

Cystic fibrosis carrier screening effects on birth prevalence and newborn screening
Castellani C, et al. Genetics in Medicine (2015)

Parents' experiences 12 years after newborn screening for genetic susceptibility to type 1 diabetes and their attitudes to whole-genome sequencing in newborns.
Kerruish N et al. Genet. Med. 2015 Jun 11.

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Pharmacogenomics

Identification of patients with variants in TPMT and dose reduction reduces hematologic events during thiopurine treatment of inflammatory bowel disease.
Coenen MJ et al. Gastroenterology 2015 Jun 10.

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Reproductive Health

Pregnancy outcomes following 24-chromosome preimplantation genetic diagnosis in couples with balanced reciprocal or Robertsonian translocations.
Idowu D et al. Fertil. Steril. 2015 Apr 103(4) 1037-42

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Reviews, News and Commentaries

When celebrities suddenly care about rare diseases, by Ricki Lewis, PLoS Blogs, June 18

Can DNA testing personalize skin care? New York Times, June 16

Finding needles in haystacks: making sense of genomic data, Genomics Education Programme, June 15

Genomic Medicine Meeting VIII: NHGRI's Genomic Medicine Portfolio (GM8), NHGRI, June 15

National Academies unveil gene editing advisory group, Front Line Genomics, June 15

Aging: Nature's way of reducing competition for resources, by Andrew Grant, Science News, June 12 [by paid subscription only]

Cancer discovered from prenatal blood test can save lives, by Veronica Hackethal, Medscape, June 11 [by free subscription only]

I got my genes tested. Should You? What genetic tests can tell us now and in the future, by Alexandra Ossola, Popular Science, June 11

Mom's diet during pregnancy can affect child's lifetime cancer risk, by Alice Park, Time, June 11

NIH approves strategic vision to transform National Library of Medicine, NIH News, June 11

ClinGen and lessons for the Precision Medicine Initiative, by Allison Proffitt, Bio IT World, June 10

Family ties: Why genetics matter, Dana-Farber Cancer Institute, June 10

Funders must encourage scientists to share, Nature News, June 10

Genomic underpinnings of brain tumors expanded, National Cancer Institute News, June 10