Published on 06/22/2017
Human Genomics across the Lifespan
Birth Defects and Child Health
-
Sickle Cell in the Emergency Department
-
Sickle cell disease and implementation science: A partnership to accelerate advances.
King Allison A et al. Pediatric blood & cancer 2017 May -
The Promise and Opportunities for Screening and Treating Childhood Obesity: USPSTF Recommendation Statement.
Quattrin Teresa, et al. JAMA pediatrics 2017 0 0. (8) 733-735 -
With a rapper's death, harsh spotlight falls on slow progress against sickle cell
S Begley, StatNews, June 21, 2017 -
Machine learning can detect a genetic disorder from speech recordings
University of Wisconsin at Madison, June, 2017
Cancer
-
Clinical use of the Oncotype DX genomic test to guide treatment decisions for patients with invasive breast cancer.
McVeigh Terri P et al. Breast cancer (Dove Medical Press) 2017 9393-400 -
Predictability of BRCA1/2 mutation status in patients with ovarian cancer: How to select women for genetic testing in middle-income countries.
Teixeira Natalia et al. Maturitas 2017 Jun -
Acceptance of adjuvant chemotherapy recommendations in early-stage hormone-positive breast cancer.
Marcinkowski Emily F et al. The Journal of surgical research 2017 Jun 21479-85 -
A universal genetic testing initiative for patients with high-grade, non-mucinous epithelial ovarian cancer and the implications for cancer treatment.
Bednar Erica M et al. Gynecologic oncology 2017 Jun -
Use of the BOADICEA Web Application in clinical practice: appraisals by clinicians from various countries.
Brédart Anne et al. Familial cancer 2017 Jun -
Pattern recognition for predictive, preventive, and personalized medicine in cancer.
Cheng Tingting et al. The EPMA journal 2017 Mar 8(1) 51-60 -
Precision Oncology: Gene Changes Predict Immunotherapy Response
NIH Director Blog, June 20, 2017 -
Preferences for breast cancer risk reduction among BRCA1/BRCA2 mutation carriers: a discrete-choice experiment.
Liede Alexander et al. Breast cancer research and treatment 2017 Jun -
Von Hippel-Lindau and Hereditary Pheochromocytoma/Paraganglioma Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood.
Rednam Surya P et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jun 23(12) e68-e75 -
PTEN, DICER1, FH, and Their Associated Tumor Susceptibility Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood.
Schultz Kris Ann P et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jun 23(12) e76-e82 -
Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk.
Villani Anita et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jun 23(12) e83-e90 -
Impact of a 31-gene Expression Profiling Test for Cutaneous Melanoma on Dermatologists' Clinical Management Decisions.
Farberg Aaron S et al. Journal of drugs in dermatology : JDD 2017 May 16(5) 428-431 -
Predictors of BRCA1/2 genetic testing among Black women with breast cancer: a population-based study.
Jones Tarsha et al. Cancer medicine 2017 Jun -
Does personalised melanoma genomic risk information trigger conversations about skin cancer prevention and skin examination with family, friends and health professionals?
Smit A K et al. The British journal of dermatology 2017 Jun -
Genetic counseling for hereditary cancer: A primer for NPs.
et al. The Nurse practitioner 2017 Jul 42(7) 28-29 -
Where cigarette smoking's damage is done... down to your DNA
Science Magazine, June 12, 2017 -
Do online prognostication tools represent a valid alternative to genomic profiling in the context of adjuvant treatment of early breast cancer? A systematic review of the literature.
El Hage Chehade Hiba et al. American journal of surgery 2017 Jun -
Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers.
Kuchenbaecker Karoline B et al. JAMA 2017 Jun 317(23) 2402-2416 -
Do What I Couldn't...and Go Save Your Life
Amy B Shainman, June, 2017 -
Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA)
The Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) is a computer program that is used to calculate the risks of breast and ovarian cancer in women based on their family history. -
PARP Inhibitor for Metastatic Breast Cancer
NEJM Journal Watch, June 14, 20 -
FDA Approves Pembrolizumab for Tumors with Specific Genetic Features
NCI, June 20, 2017
Chronic Disease
-
The Efficacy of Genetic Counseling for Psychiatric Disorders: a Meta-Analysis.
Moldovan Ramona et al. Journal of genetic counseling 2017 Jun -
Gut microbiome and serum metabolome alterations in obesity and after weight-loss intervention.
Liu Ruixin et al. Nature medicine 2017 Jun -
Is the atopic march related to confounding by genetics and early life environment? A systematic review of sibship and twin data.
Khan Sabria J et al. Allergy 2017 Jun -
ATTITUDES TOWARD GENETIC COUNSELING AND TESTING IN PATIENTS WITH INHERITED ENDOCRINOPATHIES.
Gallagher Thomas M et al. Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2017 Jun -
Scientists Discover a Key to a Longer Life in Male DNA
C Zimmer, New York Times, June 16, 2017 -
An online tool to help you decide whether or not to get tested to learn your genetic risk for late-onset Alzheimer's disease.
-
Genes and the environment? Factors, patterns that lead to childhood obesity risk
Science Mag, June 16, 2017 -
A Couple's Quest To Stop A Rare Disease Before It Takes One Of Them
NPR, All Things Considered, June 19, 2019 -
Centenarians as extreme phenotypes: An ecological perspective to get insight into the relationship between the genetics of longevity and age-associated diseases.
Giuliani Cristina et al. Mechanisms of ageing and development 2017 Feb -
ASH Announces Upcoming Sickle Cell Disease Guidelines,
by Mathew Shanley, Rare DR, June 19, 2017
Practice
-
MyGeneFriends: A Social Network Linking Genes, Genetic Diseases, and Researchers.
Allot Alexis et al. Journal of medical Internet research 2017 Jun 19(6) e212 -
"If It Helps, It's Worth a Try": an Investigation of Perceptions and Attitudes about Genetic Counseling among Southern Manitoba Hutterites.
Gemmell Amber P et al. Journal of genetic counseling 2017 Jun -
In Retrospect: A decade of shared genomic associations.
Manolio Teri A et al. Nature 2017 Jun 546(7658) 360-361 -
The Hope and Hype of CRISPR-Cas9 Genome Editing: A Review.
Musunuru Kiran et al. JAMA cardiology 2017 Jun -
With precision medicine, social determinants could be more insightful than genetics
T Sullivan, Healthcare IT News, June 2017
Heart, Lung, Blood and Sleep Diseases
-
The Effect of Genetic Polymorphisms in SLCO2B1 on the Lipid-lowering Efficacy of Rosuvastatin in Healthy Adults with Elevated Low-density Lipoprotein.
Kim Tae-Eun et al. Basic & clinical pharmacology & toxicology 2017 Jun
Newborn Screening
-
Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn.
Pavey Ashleigh R et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jun
Pharmacogenomics
-
The Impact of Methylenetetrahydrofolate Reductase C677T Polymorphism on Patients Undergoing Allogeneic Hematopoietic Stem Cell Transplantation with Methotrexate Prophylaxis.
Byun Ja Min et al. PloS one 2016 11(10) e0163998 -
The COMT Val(108/158)Met Genetic Polymorphism can not be Recommended as a Biomarker of Prediction of Venlafaxine Efficacy in Patients treated in Psychiatric settings.
Taranu Adela et al. Basic & clinical pharmacology & toxicology 2017 Jun -
Clinical Implementation of Pharmacogenomics for Personalized Precision Medicine: Barriers and Solutions.
Klein Michelle Elizabeth et al. Journal of pharmaceutical sciences 2017 Jun
Reproductive Health
-
Genome-wide cfDNA screening: clinical laboratory experience with the first 10,000 cases.
Ehrich Mathias et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jun -
Enhanced First Trimester Screening for Trisomy 21 with Contingent Cell-Free Fetal DNA: A Comparative Performance and Cost Analysis.
Huang Tianhua et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2017 Jun -
Invasive Prenatal Diagnostic Testing Recommendations are Influenced by Maternal Age, Statistical Misconception and Perceived Liability.
Miron-Shatz Talya et al. Journal of genetic counseling 2017 Jun -
Implementation of multidisciplinary care reduces maternal mortality in women with sickle cell disease living in low-resource setting.
Asare Eugenia Vicky et al. American journal of hematology 2017 May -
Babies? DNA affects mothers? risk of pre-eclampsia in pregnancy, study finds
Science Mag, June 19, 2017 -
Sickle Cell Disease.
Piel Frédéric B et al. The New England journal of medicine 2017 376(16) 1561-1573
Tools/Databases
-
The dbGaP data browser: a new tool for browsing dbGaP controlled-access genomic data.
Wong Kira M et al. Nucleic acids research 2017 Jan 45(D1) D819-D826
News/ Reviews/Comments
-
The Upside of Bad Genes,
by Moises Velasquez-Manoff, The New York Times, June 17, 2017 -
This Study Is Forcing Scientists To Rethink The Human Genome,
by Kristen V. Brown, Gizmodo, June 17, 2017 -
New concerns raised over value of genome-wide disease studies,
by Ewen Callaway, Nature, June 15, 2017