Published on 02/09/2017
Human Genomics across the Lifespan
Birth Defects and Child Health
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Genetic Disorders of Dental Development: Tales from the Bony Crypt.
Frazier-Bowers Sylvia A et al. Current osteoporosis reports 2017 Jan -
Genetics of inherited cardiocutaneous syndromes: a review.
Bardawil Tara et al. Open heart 2016 3(2) e000442 -
Congenital hearing loss.
Korver Anna M H et al. Nature reviews. Disease primers 2017 316094 -
What Is New in Genetics of Congenital Heart Defects?
Digilio Maria Cristina et al. Frontiers in pediatrics 2016 4120 -
Sickle Cell Trait: A Benign State?
Kotila Taiwo R et al. Acta haematologica 2016 136(3) 147-51 -
Sickle Cell Trait and Interpretation of Hemoglobin A1c Levels.
Bleyer Anthony J et al. JAMA 2017 Feb 317(5) 481-482 -
Key Findings: CDCs Sickle Cell Data Collection Program Data Useful in Describing Patterns of Emergency Department Visits by Californians with Sickle Cell Disease (SCD)
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The need for a next-generation public health response to rare diseases.
R Valdez et al, CDC Blog Post, February 2017 -
Sickle cell trait: what are the costs and benefits of screening?
Shephard Roy J et al. The Journal of sports medicine and physical fitness 2016 Dec 56(12) 1562-1573 -
Gene therapy: Deaf to hearing a whisper
J Gallagher, BBC, February 7, 2017 -
Association of Sickle Cell Trait With Hemoglobin A1c in African Americans.
Lacy Mary E et al. JAMA 2017 Feb 317(5) 507-515 -
Advances in genetic hearing loss: CIB2 gene.
Jacoszek Agnieszka et al. European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2016 Oct -
DMDtoolkit: a tool for visualizing the mutated dystrophin protein and predicting the clinical severity in DMD.
Zhou Jiapeng et al. BMC bioinformatics 2017 Feb 18(1) 87 -
[Recommendations for the diagnosis and treatment of classic forms of 21-hydroxylase-deficient congenital adrenal hyperplasia].
Rodríguez Amparo et al. Anales de pediatria (Barcelona, Spain : 2003) 2017 Feb -
"They Just Want to Know" - Genetic Health Professionals' Beliefs About Why Parents Want to Know their Child's Carrier Status.
Vears Danya F et al. Journal of genetic counseling 2017 Feb -
Adherence to clinic recommendations among patients with phenylketonuria in the United States.
Jurecki E R et al. Molecular genetics and metabolism 2017 Jan -
Host genetics role in the pathogenesis of periodontal disease and caries.
Nibali Luigi et al. Journal of clinical periodontology 2016 Oct -
Sickle cell trait in black patients can skew diabetes test results
S Gordon, UPI, February 7, 2017 -
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.
Ramoni Rachel B et al. American journal of human genetics 2017 Feb 100(2) 185-192 -
Genetics of Congenital Heart Disease: Past and Present.
Muntean Iolanda et al. Biochemical genetics 2016 Nov
Cancer
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Genetic Testing and Counseling Among Patients With Newly Diagnosed Breast Cancer .
Kurian Allison W et al. JAMA 2017 317(5) 531-534 -
Many high-risk patients with breast cancer arent getting genetic testing. Heres why
L McGinley, Washington Post, February 7, 2017 -
Grail to pour $1 billion into blood test to detect early cancer.
Sheridan Cormac et al. Nature biotechnology 2017 Feb 35(2) 101-102 -
The potential utility of re-mining results of somatic mutation testing: KRAS status in lung adenocarcinoma.
Biernacka Anna et al. Cancer genetics 2016 May 209(5) 195-8 -
Early Detection of Ovarian Cancer using the Risk of Ovarian Cancer Algorithm with Frequent CA125 Testing in Women at Increased Familial Risk - Combined Results from Two Screening Trials.
Skates Steven J et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jan -
Breast oncology precision medicine: Genomic testing and treatment at the population level.
Li Yun et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 Mar 34(7_suppl) 288 -
Contralateral prophylactic mastectomy decision-making in the population-based iCanCare study of early-stage breast cancer patients.
Hawley Sarah T et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 Mar 34(7_suppl) 177 -
Understanding patterns of genetic risk evaluation (GRE) referral and uptake in patients (pts) with epithelial ovarian cancer (EOC).
Morgan Robert et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 Mar 34(7_suppl) 254 -
Women With Breast Cancer Miss Out On Recommended Genetic Testing
J Boddy, NPR, February 7, 2017 -
Low utility of Oncotype DX® in the clinic.
Ricks-Santi Luisel J et al. Cancer medicine 2017 Feb -
Psychosocial factors associated with the uptake of contralateral prophylactic mastectomy among BRCA1/2 mutation noncarriers with newly diagnosed breast cancer.
Hamilton Jada G et al. Breast cancer research and treatment 2017 Feb -
High-risk breast cancer patients fail to receive genetic testing,
by Ana Sandoiu, Medical News Today, February 7, 2017 -
Opportunities for precision medicine: Factors associated with participation in genetic research among breast cancer survivors.
Zheng Ling et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 Jan 34(3_suppl) 94 -
Personalized medicine as a model of care to improve patient outcomes, communication, and reduce cost.
Davis John M et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 Jan 34(3_suppl) e270 -
Impact of hereditary multigene panel testing for cancer survivors.
Swisher Jennifer et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 Jan 34(3_suppl) 261 -
Patient uptake and satisfaction with advanced genomic technologies offered through an employee benefit program.
Knickelbein Kelly Z et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 Mar 34(7_suppl) 72 -
BRCA1 and BRCA2 mutation predictions using the BRCAPRO and Myriad models in Korean ovarian cancer patients.
Eoh Kyung Jin et al. Gynecologic oncology 2017 Feb -
Single-Center Experience with a Targeted Next Generation Sequencing Assay for Assessment of Relevant Somatic Alterations in Solid Tumors.
Paasinen-Sohns Aino et al. Neoplasia (New York, N.Y.) 2017 Feb 19(3) 196-206 -
Mainstreaming cancer genetics: A model integrating germline BRCA testing into routine ovarian cancer clinics.
Kentwell Maira et al. Gynecologic oncology 2017 Feb -
Targeted pharmacotherapy after somatic cancer mutation screening.
Polasek Thomas M et al. F1000Research 2016 51551 -
Molecular Biomarkers for the Evaluation of Colorectal Cancer: Guideline From the American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology, and the American Society of Clinical Oncology.
Sepulveda Antonia R et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 Feb JCO2016719807 -
Molecular Biomarkers for the Evaluation of Colorectal Cancer: Guideline From the American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology, and American Society of Clinical Oncology.
Sepulveda Antonia R et al. Archives of pathology & laboratory medicine 2017 Feb
Chronic Disease
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Personalized Medicine in Respiratory Disease: Role of Proteomics.
Priyadharshini V S et al. Advances in protein chemistry and structural biology 2016 102115-46 -
Genetic testing in ALS: A survey of current practices.
Vajda Alice et al. Neurology 2017 Feb -
(476) Assessing pain perception by genetic testing of COMT haplotypes influences clinical decisions for chronic non-cancer pain patients.
Anand N et al. The journal of pain : official journal of the American Pain Society 2016 Apr 17(4S) S93 -
Recent advances in understanding and treating COPD related to α1-antitrypsin deficiency.
Henao Maria Paula et al. Expert review of respiratory medicine 2016 Dec 10(12) 1281-1294
Ethics/Policy/Law
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Regulation of genomic and biobanking research in Africa: a content analysis of ethics guidelines, policies and procedures from 22 African countries.
de Vries Jantina et al. BMC medical ethics 2017 Feb 18(1) 8 -
Approaching confidentiality at a familial level in genomic medicine: a focus group study with healthcare professionals.
Dheensa Sandi et al. BMJ open 2017 Feb 7(2) e012443
Practice
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Evaluating Precision Medicine's Ability to Improve Population Health.
Hoosien Michael et al. JAMA 2017 317(4) 440-441 -
Biobanking for All of Us
Genetic engineering and Biotechnology News, February 2017 -
How gene editing is revolutionizing the pharmaceuticals industry
The Telegraph, February 5, 2017 -
Which Results to Return: Subjective Judgments in Selecting Medically Actionable Genes.
Lázaro-Muñoz Gabriel et al. Genetic testing and molecular biomarkers 2017 Feb -
Implementation Science in Genomic Medicine: Why we need it now!
MC Roberts et al, CDC blog post, February 2017 -
How Can Genetically Informed Research Help Inform the Next Generation of Interparental and Parenting Interventions?
Harold Gordon T et al. Child development 2017 Feb
Heart, Lung, Blood and Sleep Diseases
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6 Reasons to Talk to Your Family About Heart Disease
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LDLR Variant Databases and Familial Hypercholesterolemia Population Studies.
Andersen Lars, et al. Journal of the American College of Cardiology 2017 0 0. (6) 754-755 -
Child-Parent Familial Hypercholesterolemia Screening in Primary Care.
Wald David S et al. The New England journal of medicine 2017 376(5) 499-500 -
Child-Parent Familial Hypercholesterolemia Screening in Primary Care.
Kullo Iftikhar J et al. The New England journal of medicine 2017 376(5) 498 -
Child-Parent Familial Hypercholesterolemia Screening in Primary Care.
Martin Andrew C et al. The New England journal of medicine 2017 376(5) 498 -
Child-Parent Familial Hypercholesterolemia Screening in Primary Care.
Khera Amit V et al. The New England journal of medicine 2017 376(5) 498-9 -
Why Are Young, Fit People Dying From Heart Disease?
By Anna Medaris Miller, Health US News, February 2, 2017 -
Analysis of Children and Adolescents with Familial Hypercholesterolemia.
Minicocci Ilenia et al. The Journal of pediatrics 2017 Feb
Newborn Screening
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Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience.
Ahrens-Nicklas Rebecca C et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Feb
Pharmacogenomics
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Clinical impact of pharmacogenetic profiling with a clinical decision support tool in polypharmacy home health patients: A prospective pilot randomized controlled trial.
Elliott Lindsay S et al. PloS one 2017 12(2) e0170905
Reproductive Health
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Attitudes Toward Pre-implantation Genetic Diagnosis (PGD) for Genetic Disorders Among Potential Users in Malaysia.
Olesen Angelina Patrick et al. Science and engineering ethics 2016 Feb 22(1) 133-46 -
Secrets of life in a spoonful of blood
C AInsworth, Nature News, February 7, 2017
News/ Reviews/Comments
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NIH to expand critical catalog for genomics research,
NHGRI, February 2, 2017