Published on 04/27/2017
Human Genomics across the Lifespan
Birth Defects and Child Health
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When even genome sequencing does not provide a diagnosis.
Tech Review, April 2017 -
Emergency department utilization by Californians with sickle cell disease, 2005-2014.
Paulukonis Susan T et al. Pediatric blood & cancer 2017 Jun 64(6) -
Massive-scale genomic data sharing to improve rare disease diagnosis
D MacArthur VIDEO presentation, Scripps Institute, Future of Genomic Medicine 2017
Cancer
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A Retrospective Exploration of the Impact of the 'Angelina Jolie Effect' on the Single State-Wide Familial Cancer Program in Perth, Western Australia.
Freedman Rebecca et al. Journal of genetic counseling 2017 Feb 26(1) 52-62 -
Genetics of Pancreatic Cancer and Its Implications on Therapy.
Tatarian Talar et al. The Surgical clinics of North America 2016 Dec 96(6) 1207-1221 -
Does the microbiome play a role in the effectiveness of colorectal cancer treatment?
Science Magazine, April 24, 2017 -
Psychosocial and Clinical Factors Associated with Family Communication of Cancer Genetic Test Results among Women Diagnosed with Breast Cancer at a Young Age.
Elrick Ashley et al. Journal of genetic counseling 2017 Feb 26(1) 173-181 -
Georgia Primary Care Providers' Knowledge of Hereditary Breast and Ovarian Cancer Syndrome.
Nair Navya et al. Journal of cancer education : the official journal of the American Association for Cancer Education 2017 Mar 32(1) 119-124 -
Molecular Testing for Colorectal Cancer: 5 Pressing Questions Answered
M Yergulun, Cure Magazine, April 2017 -
Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations.
Nielsen Sofie V et al. PLoS genetics 2017 Apr 13(4) e1006739 -
Blood test offers hope for better lung cancer treatment
Washington Post, April 27, 2017 -
Contralateral Prophylactic Mastectomy: Aligning Patient Preferences and Provider Recommendations.
Fayanju Oluwadamilola M et al. JAMA surgery 2017 Mar 152(3) 282-283 -
Cancer risk awareness and screening uptake in individuals at higher risk for colon cancer: a cross-sectional study.
Salimzadeh Hamideh et al. BMJ open 2016 Dec 6(12) e013833 -
Women's preferences for contralateral prophylactic mastectomy following unilateral breast cancer: What risk-reduction makes it worthwhile?
Tesson Stephanie et al. Breast (Edinburgh, Scotland) 2017 Feb 31233-240 -
Family History Helped This Survivor Catch Pancreatic Cancer Early-
About 10 percent of pancreatic cancer cases are connected to family history.
Celgene blog post, April 25, 2017 -
An exploratory study of patients' views about being at high-risk for breast cancer and risk management beliefs and intentions, before and after risk counselling: Preliminary evidence of the influence of beliefs on post-counselling prevention intentions.
Paquet Lise et al. Patient education and counseling 2017 Mar 100(3) 575-582 -
Prospective Evaluation of a 12-Gene Assay on Patient Treatment Decisions and Physician Confidence in Mismatch Repair Proficient Stage IIA Colon Cancer.
Renfro Lindsay A et al. Clinical colorectal cancer 2017 Mar 16(1) 23-30 -
Performance of Lynch syndrome predictive models in quantifying the likelihood of germline mutations in patients with abnormal MLH1 immunoexpression.
Cabreira Verónica et al. Familial cancer 2017 Jan 16(1) 73-81 -
Adherence to Recommended Risk Management among Unaffected Women with a BRCA Mutation.
Buchanan Adam H et al. Journal of genetic counseling 2017 Feb 26(1) 79-92 -
Molecular Drivers of Pancreatic Cancer Pathogenesis: Looking Inward to Move Forward.
Khan Mohammad Aslam Aslam et al. International journal of molecular sciences 2017 Apr 18(4) -
Molecular Genetics of Pancreatic Neoplasms.
Hosoda Waki et al. Surgical pathology clinics 2016 Dec 9(4) 685-703 -
Urgent improvements needed to diagnose and manage Lynch syndrome.
Monahan Kevin J et al. BMJ (Clinical research ed.) 2017 Mar 356j1388
Chronic Disease
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Those at Highest Genetic Risk of Fracture Benefit Most From Hormone Therapy
Frontline Genomics, April 2017 -
The influence of genetic susceptibility and calcium plus vitamin D supplementation on fracture risk.
Wang Youjin et al. The American journal of clinical nutrition 2017 Apr 105(4) 970-979 -
Toward personalized calcium and vitamin D supplementation.
Civitelli Roberto et al. The American journal of clinical nutrition 2017 Apr 105(4) 777-778
Practice
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Telegenetics: The Future Is Here [PDF 2.41 MB]
NCC Collaborators, 2016 -
Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies.
Mackley Michael P et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Mar 19(3) 283-293 -
National DNA Day 2017
Celebrate National DNA Day on April 25 -
"He Beat You in the Blood": Knowledge and Beliefs About the Transmission of Traits Among Latinos from Mexico and Central America.
Sandberg Joanne C et al. Journal of immigrant and minority health 2017 Feb 19(1) 170-178 -
Genetics Education Outreach Network
from the American Society for Human Genetics -
Could genetics influence what we like to eat?
Science magazine, April 23, 2017 -
Telegenetics: an Update on Availability and Use of Telemedicine in Clinical Genetics Service.
Vrecar Irena et al. Journal of medical systems 2017 Feb 41(2) 21 -
Genomic Literacy, Education, and Engagement (GLEE) Initiative: Strategic Visioning Meeting
NHGRI, March 2017, meeting agenda and presentations -
Sharing Genome Data
C Wright, TGMI Blog Post, April 2017 -
The future of human genome editing.
et al. Nature genetics 2017 Apr 49(5) 653 -
Engagement and communication among participants in the ClinSeq Genomic Sequencing Study.
Hooker Gillian W et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jan 19(1) 98-103
Heart, Lung, Blood and Sleep Diseases
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I Never Had a Clue
the FH Foundation, April 24, 2017 -
Follow-up care by a genetic counsellor for relatives at risk for cardiomyopathies is cost-saving and well-appreciated: a randomised comparison.
Nieuwhof Karin et al. European journal of human genetics : EJHG 2017 Feb 25(2) 169-175
Newborn Screening
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Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation.
McCrory Nicholas M et al. The Journal of pediatrics 2017 Jan 180200-205.e8
Reproductive Health
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First trimester contingent screening for trisomies 21,18,13: is this model cost efficient and feasible in public health system?
Colosi Enrico 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 2017 Jan 1-6 -
Analysis of cell-free fetal DNA in maternal blood for detection of trisomy 21, 18 and 13 in a general pregnant population and in a high risk population - a systematic review and meta-analysis.
Iwarsson Erik et al. Acta obstetricia et gynecologica Scandinavica 2017 Jan 96(1) 7-18