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

Genomics|Update|Non Communicable Diseases

Volume 34  Number 4  January 29 - February 5, 2015

Human Genomics across the Lifespan

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

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

Birth Defects and Child Health

The TREAT-NMD DMD Global database: Analysis of more than 7000 Duchenne muscular dystrophy mutations
Bladen CL, et al. Hum Mutat 2015 Jan

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Cancer

Consumer familiarity, perspectives and expected value of personalized medicine with a focus on applications in oncology
Garfeld S, et al. Per Med 2015 Jan;12(1):13-22

Genetic counseling for hereditary breast and ovarian cancer among Puerto Rican women living in the United States
Scherr CL, et al. Rev Recent Clin Trials 2015 Jan

Genetic screening of patients with Medullary Thyroid Cancer (MTC) in a referral center in Greece during the past two decades
Sarika L, et al. Eur J Endocrinol 2015 Jan

Prospective approach to breast cancer risk prediction in African American women: The black women's health study model
Boggs DA, et al. J Clin Oncol 2015 Jan

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Chronic Diseases

Clinical utility gene card for: Arterial tortuosity syndrome
Albuisson J, et al. Eur J Hum Genet 2015 Jan

Clinical utility gene card for: Fibrodysplasia ossificans progressiva
Bravenboer N, et al. Eur J Hum Genet 2015 Jan

Cognitive resilience to apolipoprotein E ε4: Contributing factors in black and white older adults 
Allison R. Kaup, et al. JAMA Neurology, January 2015

Current status of Huntington's disease in Korea: A nationwide survey and national registry analysis
Kim HS, et al. J Mov Disord 2015 Jan;8(1):14-20

Familial hypercholesterolemia-epidemiology, diagnosis, and screening
Singh S & Bittner V Curr Atheroscler Rep 2015 Feb;17(2):482

Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder
Robert Maier et al. AM J Human Genetics, January 29, 2015

Molecular genetic testing in clinical diagnostic assessments that demonstrate correlations in patients with autosomal recessive inherited retinal dystrophy
Liu X, et al. JAMA Ophthalmol 2015 Jan

Psychiatrist attitudes towards pharmacogenetic testing, direct-to-consumer genetic testing, and integrating genetic counseling into psychiatric patient care
Thompson C, et al. Psychiatry Res 2014 Dec

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity
Alfares AA, et al. Genet Med 2015 Jan

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Ethics, Policy and Law

FDA proposes tighter regulation over genetic lab tests: Federal agency cites need to improve test quality, minimize risk to patients
Am J Med Genet A 2015 Feb;167(2):viii-ix

GINA, genetic discrimination, and genomic medicine
Green R, et al. N Engl J Med 2015; 372:397-399 2015 Jan 29

NIH's genomic data sharing policy: timing and tradeoffs
Contreras JL Trends Genet 2015 Jan

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Genomics in Practice

A one-page summary report of genome sequencing for the healthy adult
Vassy J.L et al. Public Health Genomics, January 2015

A new approach to assessing affect and the emotional implications of personal genomic testing for common disease risk.
O'Neill SC, et al. Public Health Genomics. 2015 Jan 21.

Are Australasian genetic counselors interested in private practice at the primary care level of health service?
Sane V, et al. J Genet Couns  2015 Jan

Assessing the utility of confirmatory studies following identification of large-scale genomic imbalances by microarray. 
Sanmann JN et al. Genetics in Medicine, January 15, 2015

Clinical validation of targeted next-generation sequencing for inherited disorders
Yohe S, et al. Arch Pathol Lab Med 2015 Feb;139(2):204-10

Effects of racial and ethnic group and health literacy on responses to genomic risk information in a medically underserved population
Kaphingst KA, et al. Health Psychol 2015 Feb;34(2):101-10

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects
Vrijenhoek T, et al. European Journal of Human Genetics 2015 Jan 28

Research participants in NGS studies want to know about incidental findings
Jelsig AM, et al. Eur J Hum Genet 2015 Jan

Translation and validation of a Spanish-language genetic health literacy screening tool
Rodriguez SA, et al. Health Psychol 2015 Feb;34(2):120-9

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Newborn Screening

An audit of newborn screening procedure: Impact on infants presenting clinically before results are available
Tal G, et al. Mol Genet Metab 2015 Jan

[Neonatal screening for hemoglobinopathies in Sao Carlos, Sao Paulo, Brazil: analysis of a series of cases.]
Silva CA, et al. Rev Paul Pediatr 2015 Jan

Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes
Howard H, et al. European Journal of Human Genetics 2015 Jan 28

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Pharmacogenomics

An effective strategy to prevent allopurinol-induced hypersensitivity by HLA typing
Jae-Woo Jung, et al. Genetics in Medicine, January 29, 2015

Economic evaluation of a pharmacogenetic dosing algorithm for coumarin anticoagulants in The Netherlands
Verhoef TI, et al. Pharmacogenomics 2015 Jan;16(2):101-14

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Reproductive Health

Noninvasive prenatal testing for trisomy 21, 18 and 13 - clinical experience from 146,958 pregnancies.
Zhang H, et al. Ultrasound Obstet Gynecol. 2015 Jan 19.

Routine use of next-generation sequencing for preimplantation genetic diagnosis of blastomeres obtained from embryos on day 3 in fresh in vitro fertilization cycles
Lukaszuk K, et al. Fertil Steril 2015 Jan

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Reviews, News and Commentaries

Digital medical tools and sensors
Eric J. Topol, et al. JAMA January 27, 2015

US lawmakers seek to revamp biomedical research, by Sara Readon, Nature News, Jan 28

When is genomic sequencing worth the cost? By Alex Smith, KCUR.org, Jan 28

Myriad Genetics ending patent dispute on breast cancer risk testing, by Andrew Pollack, The New York Times, Jan 27

NIH launches tool to advance Down syndrome research, NIH News, January 27, 2015

DNA blood test gives women a new option for prenatal screening, National Public Radio, Jan26

Can this treatment help me? There’s a statistic for that, New York Times, Jan 26

My BRCA journey: Why fear of information imperils genetic testing, by Meredith Salisbury, Forbes, Jan 26

Direct to consumer genetic testing—is all knowledge power? By Margaret McCartney,
BMJ 2015; 350, 26 January 2015

The potential impact of big data on medicine, by Amy Standen , NPR News Podcast, Jan 25

Obama to request research funding for treatments tailored to patients' DNA, by Robert Pear, The New York Times, Jan 24

Should direct-to-consumer DNA tests come with a health warning? By Jessica Cussins, Genetic Literacy Project, Jan 23

Who should have access to your DNA? Eric Topol, Backchannel, Jan 23

Environment, more than genetics, shapes immune system, Emily Conover, Science News, Jan 15

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Tools and Databases

Biological interpretation of genome-wide association studies using predicted gene functions. 
Tune H. Pers et al. Nature Communications, January 2015

DS-Connect®: The Down Syndrome Registry

DEPICT is an integrative tool that systematically prioritizes the most likely causal genes at associated loci, from the Broad Institute

EINVis: A visualization tool for analyzing and exploring genetic interactions in large-scale association studies