Volume 34 Number 10 March 12-19, 2015
Human Genomics across the Lifespan
Birth Defects and Child Health
Sickle cell disease: a neglected chronic disease of increasing global health importance.
Chakravorty S et al. Arch. Dis. Child. 2015 Jan 100(1) 48-53
Chakravorty S et al. Arch. Dis. Child. 2015 Jan 100(1) 48-53
Cancer
Cost-effectiveness of the 21-gene breast cancer assay in Mexico.
Bargalló-Rocha JE et al. Adv Ther 2015 Mar Mar 5.
Bargalló-Rocha JE et al. Adv Ther 2015 Mar Mar 5.
Facilitators and challenges in psychosocial adaptation to being at increased familial risk of breast cancer.
Heiniger L et al. J Genet Couns 2015 Mar 5.
Heiniger L et al. J Genet Couns 2015 Mar 5.
Familial clustering of breast and prostate cancer and risk of postmenopausal breast cancer in the Women's Health Initiative Study.
Beebe-Dimmer Jennifer L et al. Cancer 2015 Mar 9.
Beebe-Dimmer Jennifer L et al. Cancer 2015 Mar 9.
Familial risks and estrogen receptor-positive breast cancer in Hong Kong Chinese women.
Tse LA et al. PLoS ONE 2015 10(3) e0120741
Tse LA et al. PLoS ONE 2015 10(3) e0120741
Genetic screening in patients with retinoblastoma in Israel.
Sagi M et al. Fam. Cancer 2015 Mar Mar 10.
Sagi M et al. Fam. Cancer 2015 Mar Mar 10.
Initial trends in the use of the 21-gene recurrence score assay for patients with breast cancer in the medicare population, 2005-2009
Dinan M, et al. JAMA Oncol. 2015 Mar 5
Dinan M, et al. JAMA Oncol. 2015 Mar 5
The value of personalizing medicine: Medical oncologists’ views on gene expression profiling in breast cancer treatment
Bombard, et al. The Oncologist 2015 Mar 6
Bombard, et al. The Oncologist 2015 Mar 6
Ontario study indicates variation in Oncotype DX Use; US study shows use according to guidelines, Genome Web, Mar 10 [by free subscription only]
Genome Web, Mar 10 [by free subscription only]
Marketing of personalized cancer care on the web: an analysis of internet websites.
Gray SW, et al. J Natl Cancer Inst. 2015 Mar 5;107(5). pii: djv030.
Gray SW, et al. J Natl Cancer Inst. 2015 Mar 5;107(5). pii: djv030.
Websites marketing genetic cancer tests oversell benefits, by Roxanne Nelson, Medscape, Mar 6 [by free subscription only]
by Roxanne Nelson, Medscape, Mar 6 [by free subscription only]
Products advertised on personalized cancer care websites: true or false claims?
Stacy W. Gray JNCI 2015 107;5
Stacy W. Gray JNCI 2015 107;5
Refining treatment decisions in older patients with breast cancer
Flaum L, et al. JAMA Oncol. 2015 Mar 5
Flaum L, et al. JAMA Oncol. 2015 Mar 5
The landscape of precision cancer medicine clinical trials in the United States
Roger N, et al. Cancer Treatment Review 2015 Feb 28
Roger N, et al. Cancer Treatment Review 2015 Feb 28
Chronic Diseases
Family physicians' management of genetic aspects of a cardiac disease: a scenario-based study from Slovenia.
Klemenc-Ketiš Z et al. Balkan J. Med. Genet. 2014 Jun 17(1) 15-22
Klemenc-Ketiš Z et al. Balkan J. Med. Genet. 2014 Jun 17(1) 15-22
Genetic screening in the workplace.
Brandt-Rauf P et al. J. Occup. Environ. Med. 2015 Mar Mar 57(3) e17-8
Brandt-Rauf P et al. J. Occup. Environ. Med. 2015 Mar Mar 57(3) e17-8
Relationship of age of onset and family history in Parkinson disease.
Barrett Matthew J et al. Mov. Disord. 2015 Mar 4.
Barrett Matthew J et al. Mov. Disord. 2015 Mar 4.
Using ApoE genotyping to promote healthy lifestyles in Finland - psychological impacts: Randomized controlled trial.
Hietaranta-Luoma HL et al. J Genet Couns 2015 Mar 5.
Hietaranta-Luoma HL et al. J Genet Couns 2015 Mar 5.
Ethics, Policy and Law
Challenges of coverage policy development for next-generation tumor sequencing panels: experts and payers weigh in.
Trosman JR et al. J Natl Compr Canc Netw 2015 Mar 13(3) 311-8
Trosman JR et al. J Natl Compr Canc Netw 2015 Mar 13(3) 311-8
Insurance companies are slow to cover next-generation sequencing.
Chakradhar S. Nat Med. 2015 Mar 5;21(3):204-5.
Chakradhar S. Nat Med. 2015 Mar 5;21(3):204-5.
Legislation in the genomic era: the Affordable Care Act and genetic testing for cancer risk assessment.
Walcott FL et al. Genet. Med. 2015 Mar 5.
Walcott FL et al. Genet. Med. 2015 Mar 5.
Genomics in Practice
Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics
ACMG Board of Directors Genet Med March 12, 2015
ACMG Board of Directors Genet Med March 12, 2015
Development of clinical decision support alerts for pharmacogenomic incidental findings from exome sequencing.
Nishimura AA et al. Genet. Med. 2015 Mar 5.
Nishimura AA et al. Genet. Med. 2015 Mar 5.
GeneYenta: A phenotype-based rare disease case matching tool based on online dating algorithms for the acceleration of exome interpretation.
Gottlieb MM et al. Hum. Mutat. 2015 Feb 23.
Gottlieb MM et al. Hum. Mutat. 2015 Feb 23.
Parent and public interest in whole-genome sequencing
Dodson D.S, et al. Public Health Genomics 2015 Mar 6
Dodson D.S, et al. Public Health Genomics 2015 Mar 6
What’s your genetic destiny? More than half of parents want to know disease risks for selves, kids, Newswise, Mar 9
Newswise, Mar 9
Societal preferences for the return of incidental findings from clinical genomic sequencing: a discrete-choice experiment.
Regier DA et al. CMAJ 2015 Mar 9.
Regier DA et al. CMAJ 2015 Mar 9.
Stakeholders' perspectives on biobank-based genomic research: systematic review of the literature.
Husedzinovic A et al. Eur. J. Hum. Genet. 2015 Mar 4.
Husedzinovic A et al. Eur. J. Hum. Genet. 2015 Mar 4.
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Richards S et al. Genet. Med. 2015 Mar 5.
Richards S et al. Genet. Med. 2015 Mar 5.
ACMG issues new joint guidelines for determining disease-causing potential of DNA sequence variations in Genetics In Medicine, Laboratory Network, Mar 5
Laboratory Network, Mar 5
Whole exome sequencing of suspected mitochondrial patients in clinical practice.
Wortmann S B et al. J. Inherit. Metab. Dis. 2015 Mar 4.
Wortmann S B et al. J. Inherit. Metab. Dis. 2015 Mar 4.
Newborn Screening
Newborn screening for galactosemia: a 30-year single center experience.
Porta F et al. World J Pediatr 2015 Mar 9.
Porta F et al. World J Pediatr 2015 Mar 9.
Saving lives with genetics: newborn screening, NHS Genetics and Genomics Education Centre, Mar 9
NHS Genetics and Genomics Education Centre, Mar 9Pharmacogenomics
Clinical implications of pharmacogenetic and microarray testing for advanced practice nurses.
Brennan KS et al. J Am Assoc Nurse Pract 2015 Mar 5.
Brennan KS et al. J Am Assoc Nurse Pract 2015 Mar 5.
Reviews, News and Commentaries
Genetics and epigenetics of eating disorders
Yilmaz Z, et al. Advances in Genomics and Genetics 2015 Mar 10
Yilmaz Z, et al. Advances in Genomics and Genetics 2015 Mar 10
Genomes project produces first diagnoses of rare diseases, the Guardian, Mar 10
the Guardian, Mar 10
House call: Genetic testing can boost health awareness, by Dr. Alisa Hideg, The Spokesman-Review, Mar 10
by Dr. Alisa Hideg, The Spokesman-Review, Mar 10
Most Canadians want return of significant genomic incidental findings, by Dr. Philippa Brice, PHG Foundation, Mar 10
by Dr. Philippa Brice, PHG Foundation, Mar 10
Privacy and the 100,000 Genome Project, by Edward Hockings and Lewis Coyne, the Guardian, Mar 10
by Edward Hockings and Lewis Coyne, the Guardian, Mar 10
Smartphones set for large-scale health studies, by Helen Shen, Nature News, Mar 10
by Helen Shen, Nature News, Mar 10
Human epigenome map yields insights into development, disease, NIH Research Matters, Mar 9
NIH Research Matters, Mar 9
UMHS to expand guidelines for genetic counseling, by Isobel Futter, The Michigan Daily, Mar 9
by Isobel Futter, The Michigan Daily, Mar 9
NIH Director talked about President Obama’s ‘Precision Medicine’ program at the future of genomic medicine conference, Empire State Tribune, Mar 7
Empire State Tribune, Mar 7
The time is now to go all in on ‘moonshot’ medicine, by Unity Stoakes, Techcrunch, Mar 7
by Unity Stoakes, Techcrunch, Mar 7
Genetic testing ads not telling the whole story, study says, by Sabriya Rice, Modern Healthcare, Mar 6
by Sabriya Rice, Modern Healthcare, Mar 6
Genomic medicine needs a long-term tack, by Bradley J. Fikes, U-T San Diego, Mat 6
by Bradley J. Fikes, U-T San Diego, Mat 6
Personalised prevention and public health: an urgent agenda, by Dr Hilary Burton and Dr Ron Zimmern, PHG Foundation, Mar 6
by Dr Hilary Burton and Dr Ron Zimmern, PHG Foundation, Mar 6
The feel-good gene, By Richard A. Friedman, the New York Times, Mar 6
By Richard A. Friedman, the New York Times, Mar 6
BCBS Michigan, UMHS collaborate on improving genetic testing practices, Genome Web, Mar 5 [by free subscription only]
Genome Web, Mar 5 [by free subscription only]
Dare to be 100: 30 billion gene folly, by Walter M. Bortz II, The Huffingtom Blog, Mar 5
by Walter M. Bortz II, The Huffingtom Blog, Mar 5
Pregnant women are finding out they have cancer from a genetic test of their babies, by Virginia Hughes, Buzz Feed News, Mar 5
by Virginia Hughes, Buzz Feed News, Mar 5
What to do with a million (billion) genomes? Share them, by Dawn Field, Outblog, Mar 5
by Dawn Field, Outblog, Mar 5
$1-million price tag set for Glybera gene therapy, Tradesecrets, Nature.com, Mar 3
Tradesecrets, Nature.com, Mar 3
Chromosome biology: You’ve come a long way, baby, PLOS Blogs, Feb 24
PLOS Blogs, Feb 24
Genetically speaking, Reach MD
Reach MD
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