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

Genomics|Update|Non Communicable Diseases

Volume 34  Number 4  January 8-15, 2015

Human Genomics across the Lifespan

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

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

Cancer

A guide for clinicians in the evaluation of emerging molecular diagnostics for newly diagnosed prostate cancer
Canfield SE, et al. Rev Urol 2014;16(4):172-80

Barriers and motivators for referral of patients with suspected Lynch syndrome to cancer genetic services: A qualitative study
Tan YY & Fitzgerald LJ J Pers Med 2014;4(1):20-34

Examining perceived cancer risk among patients with neurofibromatosis type 1
Park ER, et al. J Neurooncol 2015 Jan

Family history and risk of endometrial cancer: A systematic review and meta-analysis
Win AK, et al. Obstet Gynecol 2015 Jan;125(1):89-98

Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.
Chubb D, et al. J Clin Oncol. 2015 Jan 5. pii: JCO.2014.56.5689.

Impact of BRCA1/2 mutation on young women's 5-year parenthood rates: a prospective comparative study (GENEPSO-PS cohort)
Mancini J, et al. Fam Cancer. 2014 Dec 31

Next-generation strategies for hereditary colorectal cancer risk assessment.
Yurgelun MB J Clin Oncol. 2015 Jan 5. pii: JCO.2014.58.9895.

PIK3CA-related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation 
Keppler-Noreuil KM, et al. Am J Med Genet A 2014 Dec

Risk-reducing salpingectomy with delayed oophorectomy in BRCA1/2 mutation carriers: Patients' and professionals' perspectives
Arts-de Jong M, et al. Gynecol Oncol 2015 Jan

Precision medicine meets public health: Population screening for BRCA1 and BRCA2
Levy-Lahad E, et al. J Natl Cancer Inst 2015 Jan;107(1)

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Chronic Diseases

Improving identification of familial hypercholesterolaemia in primary care: Derivation and validation of the familial hypercholesterolaemia case ascertainment tool (FAMCAT)
Weng SF, et al. Atherosclerosis 2014 Dec;238(2):336-43

Merits and pitfalls of genetic testing in a hypertrophic cardiomyopathy clinic
Arad M, et al. Isr Med Assoc J 2014 Nov;16(11):707-13

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Ethics, Policy and Law

FDA regulation of laboratory-developed diagnostic tests:  Protect the public, advance the science. 
Joshua Sharfstein, JAMA, January 5, 2015

Genetic testing and FDA regulation:  Overregulation threatens the emergence of genomic medicine. 
Evans J et al. JAMA January 5, 2015

Q&A: FDA's Alberto Gutierrez fields questions on evolving LDT, CDx regulations
Ray T. GenomeWeb, Dec 30, 2014.

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Genomics in Practice

Cohort of birth modifies the association between FTO genotype and BMI.
Rosenquist JN, et al. Proc Natl Acad Sci U S A. 2014 Dec 29. pii: 201411893.

Gene linked to obesity hasn't always been a problem, study finds, the New York Times, Dec 31, 2014

Personalized Medicine: CCO's Vision, Accomplishments and Future Plans
Guo J, et al. Healthc Q 2014;17(SP):41-3

Physician attitudes toward adopting genome-guided prescribing through clinical decision support
Overby CL, et al. J Pers Med 2014;4(1):35-49

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Newborn Screening

Committee opinion no. 616: newborn screening and the role of the obstetrician-gynecologist
Obstet Gynecol 2015 Jan;125(1):256-60

Screening newborn blood spots for 22q11.2 deletion syndrome using multiplex droplet digital PCR
Pretto D, et al. Clin Chem. 2015 Jan;61(1):182-90.

New molecular diagnostic methods could reduce risk of miscarriage in prenatal testing for genetic diseases, PR Newswire, Jan 6, 2015

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Reviews, News and Commentaries

An epigenetic escape route 
Joanna D. Holbrook, Trends in Genetics, January 2015

A stronger post-publication culture is needed for better science. 
Hilda Bastian, PLOS Medicine, December 30, 2014

Rethinking barriers to big data. 
Tim Lougheed CMAJ January 6, 2015 vol. 187 no. 1

Big data not a cure-all in medicine, National Public Radio, Jan 5, 2015

How a consumer genetics company amassed a database of willing research participants, Antonio Regalado, Technology Review, Jan 7, 2015

NIH teams with industry to develop treatments for Niemann-Pick Type C disease, NIH News, Jan 7, 2015

BRCA, guilt and motherhood, The Washington Post, Jan 6, 2015

Considering genetic counseling about mental illness? Here's what to expect, NSGC, Jan 6

Most read personalized medicine stories of 2014, Genome Web, Jan 6, 2015 [by free subscription only]

Driving discovery of new genetic causes of developmental disorders, by Dr Philippa Brice, PHG Foundation, Jan 5, 2015

End of cancer-genome project prompts rethink- Geneticists debate whether focus should shift from sequencing genomes to analysing function, by Heidi Ledford, Nature News, Jan 5, 2015

NIH grants aim to decipher the language of gene regulation, NIH News, Jan 5, 2015

What will advances in genetics during 2014 mean for future of medicine? Genetic Literacy Project, Jan 5, 2015

Resta’s rules of genetic counseling, by Robert Resta, The DNA Exchange, Jan 3, 2015

Personalized Medicine 2014: LDT guidance, more PGx drugs, changing business models, lawsuits galore, Genome Web, Jan 2, 2015 [by free subscription only]

The next medical revolution: Whole exome sequencing, TIME Magazine, January 2015

How personalized medicine is changing: Lung cancer, Genome Magazine, Winter 2015

Finding the elusive big wisdom in big data, TechCrunch, Dec 29, 2014

Screening for Lynch syndrome pays off, Stop Colon Cancer Now blog post, Dec 26, 2014

A key molecular defect in a childhood gastrointestinal tumor may have important diagnostic implications, National Cancer Institute News, Dec 24, 2014 

Rewarding open science practices in research, OBSSR, Dec 24, 2014

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Tools and Databases

Empowering biologists with multi-omics data: colorectal cancer as a paradigm. 
Zhu J  et al. Bioinformatics. 2014 Dec 18.

Tutorial: Causality for policy assessment and impact analysis- directed acyclic graphs and Bayesian networks for causal identification and estimation, Bayesia US, 2014