Published on 06/02/2016
Human Genomics across the Lifespan
Birth Defects and Child Health
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Quantifying benefit-risk preferences for new medicines in rare disease patients and caregivers.
Morel T et al. Orphanet journal of rare diseases 2016 11(1) 70 -
The clinical utility of next-generation sequencing in the neonatal intensive care unit.
Bowdin Sarah C et al. CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne 2016 May -
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.
Daoud Hussein et al. CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne 2016 May -
Clinical utility gene card for: Wolfram syndrome.
Moosajee Mariya et al. European journal of human genetics : EJHG 2016 May -
Benefits and risks preferences for new medicines in rare diseases
S Ayme, Biomed Central Blog, May 27, 2016
Cancer
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FDA approves first blood test to detect gene mutation associated with non-small cell lung cancer
FDA, June 1, 2016 -
Building and Validating Complex Models of Breast Cancer Risk.
Dupont William D et al. JAMA oncology 2016 May -
Breast Cancer Risk From Modifiable and Nonmodifiable Risk Factors Among White Women in the United States.
Maas Paige et al. JAMA oncology 2016 May -
BRCA Share Database (formerly UMD-BRCA1 mutations database)
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Genetic counseling may change cancer outlook in families,
Djournal.com, May 27, 2016 -
Development and clinical application of an integrative genomic approach to personalized cancer therapy.
Uzilov Andrew V et al. Genome medicine 2016 8(1) 62 -
CANCER. The cancer predisposition revolution.
Malkin David et al. Science (New York, N.Y.) 2016 May 352(6289) 1052-3 -
Validity of self-reported family history of cancer: A systematic literature review on selected cancers.
Fiederling Jonas et al. International journal of cancer 2016 May -
Ovarian Cancer and BRCA1/2 Testing: Opportunities to Improve Clinical Care and Disease Prevention.
Karakasis Katherine et al. Frontiers in oncology 2016 6119 -
Data integration to prioritize drugs using genomics and curated data.
Louhimo Riku et al. BioData mining 2016 921 -
Recommendations for the implementation of BRCA testing in the care and treatment pathways of ovarian cancer patients.
Pinto Carmine et al. Future oncology (London, England) 2016 May -
The Impact of Angelina Jolie (AJ)'s Story on Genetic Referral and Testing at an Academic Cancer Centre in Canada.
Raphael Jacques et al. Journal of genetic counseling 2016 May
Ethics/Policy/Law
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The risk of re-identification versus the need to identify individuals in rare disease research.
Hansson Mats G et al. European journal of human genetics : EJHG 2016 May -
Using Newborn Screening Bloodspots for Research: Public Preferences for Policy Options.
Hayeems Robin Z et al. Pediatrics 2016 May
Practice
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MEDICINE. Paying for future success in gene therapy.
Orkin Stuart H et al. Science (New York, N.Y.) 2016 May 352(6289) 1059-61 -
A smarter, more precise way to think about public health
Dr Sue Desmond-Hellmmann TED talk Video, 2016 -
Chronic Kidney Disease - A Window into Understanding Health Disparities - Neil Powe
National Human Genome Research Institute Video lecture. April 2016 -
Money back guarantees for non-reproducible results?
Topol Eric J et al. BMJ (Clinical research ed.) 2016 353i2770 -
Opportunities and Challenges for Health Disparities Research in the Personal Genome Era
Carlos Bustamente, NHGRI video lecture, February 2016 -
Biomarker Tests for Molecularly Targeted Therapies--The Key to Unlocking Precision Medicine.
Lyman Gary H, et al. The New England journal of medicine 2016 7 0. (1) 4-6 -
Direct-to-consumer genetic testing: Perspectives on its value in healthcare.
Delaney S K et al. Clinical pharmacology and therapeutics 2016 Feb 99(2) 146-8 -
Soaring demand for genetic testing highlights need for streamlined data interpretation.
Hadjisavas Michael et al. MLO: medical laboratory observer 2016 Feb 48(2) 40-1 -
The Relationship Between Burnout and Occupational Stress in Genetic Counselors.
Johnstone Brittney et al. Journal of genetic counseling 2016 May -
A strategy for implementing genomics into nursing practice informed by three behaviour change theories.
Leach Verity et al. International journal of nursing practice 2016 May -
Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing.
Mandelker Diana et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 May -
Assessment of Genomic Literacy Among Baccalaureate Nursing Students in the United States: A Feasibility Study.
Ward Linda D et al. Nurse educator 2016 May -
Multi-Institutional FASTQ File Exchange as a Means of Proficiency Testing for Next-Generation Sequencing Bioinformatics and Variant Interpretation.
Davies Kurtis D et al. The Journal of molecular diagnostics : JMD 2016 May
Heart, Lung, Blood and Sleep Diseases
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Feasibility of improving identification of familial hypercholesterolaemia in general practice: intervention development study.
Qureshi Nadeem et al. BMJ open 2016 6(5) e011734
Newborn Screening
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Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry.
Elliott Susan et al. Molecular genetics and metabolism 2016 May -
Pubertal Height Growth and Adult Height in Cystic Fibrosis After Newborn Screening.
Zhang Zhumin et al. Pediatrics 2016 May 137(5)
Pharmacogenomics
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Opioids: Can a Genetic Test Identify an Addict in the Making?
S Gupta. Medpage, May 29, 2016 -
How does pharmacogenetic testing alter the treatment course and patient response for chronic-pain patients in comparison with the current "trial-and-error" standard of care?
DeFeo Kelly et al. Journal of the American Association of Nurse Practitioners 2014 Oct 26(10) 530-6 -
Pharmacogenetics through a public health lens: from policy to practice.
Tan-Koi Wei-Chuen et al. Pharmacogenetics and genomics 2015 Oct 25(10) 518-20
Reproductive Health
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Validation of a method for noninvasive prenatal testing for fetal aneuploidies risk and considerations for its introduction in the Public Health System.
Gerundino Francesca et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2016 May 1-7 -
Swedish healthcare providers' perceptions of preconception expanded carrier screening (ECS)-a qualitative study.
Matar A et al. Journal of community genetics 2016 May -
The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci: First Impressions of Parents' Experiences.
van der Steen S L et al. Journal of genetic counseling 2016 May
News/ Reviews/Comments
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Source material - Geneticists and historians need to work together on using DNA to explore the past,
Nature News, May 25, 2016 -
New funding to expand personalised medicine in Australia,
by Dr Philippa Brice, PHG Foundation, June 1, 2016 -
Health, fortune telling and genome sequences,
by Mark Wanner, the Jackson Laboratory Blog, May 31, 2016 -
New Institute of Medicine Report on Molecular Biomarkers.
Terry Sharon F et al. Genetic testing and molecular biomarkers 2016 May 20(5) 221-2 -
What does scientific reproducibility mean, anyway?
StatNews, June 1, 2016 -
Contextual sensitivity in scientific reproducibility.
Van Bavel Jay J et al. Proceedings of the National Academy of Sciences of the United States of America 2016 May -
A Genetic Clue to Kidney Disease in Children,
by Kevin Joy, University of Michigan Lab Blog, May 27, 2016 -
Editing our genes to cure not just treat disease,
by Meg Tirrell, CNBC, May 27, 2016 -
Researchers develop technology for printed personalised medicine,
by Victoria White, European Pharmaceutical Review, May 26, 2016 -
Mount Sinai researchers report clinical utility of personalized medicine program for cancer patients,
EurekAlert, June 1, 2016