Published on 08/10/2017
Human Genomics across the Lifespan
Birth Defects and Child Health
-
Study: Most newborns with epilepsy benefit from genetic testing
Science Mag, August 3, 2017 -
Fragile X Syndrome
CDC portal -
Fragile X syndrome: an overview and update of the FMR1 gene.
Mila Montserrat et al. Clinical genetics 2017 Jun -
Fragile X: Experts say all women should be offered screening for genetic condition
ABC News Australia, August 5, 2017 -
European Reference networks for rare diseases: what is the conceptual framework?
Héon-Klin Véronique et al. Orphanet journal of rare diseases 2017 Aug 12(1) 137
Cancer
-
Massive study launched to test personalized approach to breast cancer screening,
UC Davis, July 26, 2017 -
Cancer at Baseline Screening in Patients With Li-Fraumeni Syndrome
ASCO Post, August 4, 2017 -
Surveillance of Dutch Patients With Li-Fraumeni Syndrome: The LiFe-Guard Study
Ruijs Marielle W G et al. JAMA oncology 2017 Aug -
Cancer Genetic Counseling and Testing: Perspectives of Epithelial Ovarian Cancer Patients and Gynecologic Oncology Healthcare Providers.
Liang Margaret I et al. Journal of genetic counseling 2017 Aug -
Advances in the diagnosis of hereditary kidney cancer: Initial results of a multigene panel test.
Nguyen Kevin A et al. Cancer 2017 Aug -
Telomeres and telomerase in prostate cancer development and therapy.
Graham Mindy Kim et al. Nature reviews. Urology 2017 Jul -
Genomics in Primary and Secondary Prevention of Pancreatic Cancer.
Malats Núria et al. Public health genomics 2017 Jul -
NCI study shows feasibility of cancer screening protocol for Li-Fraumeni syndrome patients
Science Mag, August 3, 2017 -
Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome.
Kratz Christian P et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 23(11) e38-e45 -
Use of Gene Expression Profiles to Distinguish Molecular Subtypes in Colorectal Cancer: Progression Toward Primetime.
Seligmann Jenny F, et al. Journal of the National Cancer Institute 2017 0 0. (7) -
DNA Repair Dysfunction in Pancreatic Cancer: A Clinically Relevant Subtype for Drug Development.
Golan Talia et al. Journal of the National Comprehensive Cancer Network : JNCCN 2017 Aug 15(8) 1063-1069 -
Cancer Risk in Families Fulfilling the Amsterdam Criteria for Lynch Syndrome.
Samadder N Jewel et al. JAMA oncology 2017 Aug -
Surveillance in Germline TP53 Mutation Carriers Utilizing Whole-Body Magnetic Resonance Imaging
Ballinger Mandy L et al. JAMA oncology 2017 Aug -
Implementing precision cancer medicine in the public health services of Norway: the diagnostic infrastructure and a cost estimate.
Ree Anne Hansen et al. ESMO open 2017 2(2) e000158 -
Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging: A Meta-analysis
Ballinger Mandy L et al. JAMA oncology 2017 Aug -
NCI study identifies essential genes for cancer immunotherapy
NCI, August 7, 2017 -
When it Comes to Genetic Information, Sharing is Caring,
Kaylene Ready, Huffpost, August 3, 2017 -
Can a liquid biopsy detect cancer and save lives?
S Begley, Stat News, August 9, 2017 -
Prevalence of Cancer at Baseline Screening in the National Cancer Institute Li-Fraumeni Syndrome Cohort
Mai Phuong L et al. JAMA oncology 2017 Aug -
Dual-Biomarker Blood Test Shows Promise for Pancreatic Cancer Early Detection
NCI News, August 9, 2017 -
Association between the Lynch syndrome gene MSH2 and breast cancer susceptibility in a Canadian familial cancer registry.
Goldberg Mira et al. Journal of medical genetics 2017 Aug -
Systematic immunohistochemical screening for mismatch repair and ERCC1 gene expression from colorectal cancers in China: Clinicopathological characteristics and effects on survival.
Li Pan et al. PloS one 2017 12(8) e0181615 -
Expanded Gene Panel Use for Women With Breast Cancer: Identification and Intervention Beyond Breast Cancer Risk.
O'Leary Erin et al. Annals of surgical oncology 2017 Aug -
Association of Mismatch Repair Mutation With Age at Cancer Onset in Lynch Syndrome: Implications for Stratified Surveillance Strategies.
Ryan Neil A J et al. JAMA oncology 2017 Aug -
Treatment of multiple myeloma with high-risk cytogenetics: a consensus of the International Myeloma Working Group.
Sonneveld Pieter et al. Blood 2016 Jun 127(24) 2955-62 -
High-risk family colorectal cancer screening service in Ireland: Critical review of clinical outcomes.
Walshe Margaret et al. Cancer epidemiology 2017 Aug 50(Pt A) 30-38 -
Hereditary Colorectal Polyposis and Cancer Syndromes: A Primer on Diagnosis and Management.
Kanth Priyanka et al. The American journal of gastroenterology 2017 Aug
Chronic Disease
-
Families bear the burden of this disease in silence. Pope Francis made us into a community
M Gable, Stat News, August 8, 2017 -
Blue Genes? Understanding and Mitigating Negative Consequences of Personalized Information about Genetic Risk for Depression.
Lebowitz Matthew S et al. Journal of genetic counseling 2017 Aug -
Limited role of HLA DQ2/8 genotyping in diagnosing coeliac disease.
Paul Siba P et al. Scottish medical journal 2017 Feb 62(1) 25-27 -
Cigarette smoking and telomere length: A systematic review of 84 studies and meta-analysis.
Astuti Yuliana et al. Environmental research 2017 Jul 158480-489 -
Hemochromatosis and blood donation.
Braseth Turid Aarhus et al. Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis 2017 Jun 56(3) 485-489 -
Don't order HFE genetic testing for a patient without iron overload or a family history of HFE-associated hereditary hemochromatosis.
American College of Medical Genetics, 2015 -
The Complexity of Clinical Huntington's Disease: Developments in Molecular Genetics, Neuropathology and Neuroimaging Biomarkers.
Tippett Lynette J et al. Advances in neurobiology 2017 15129-161 -
Huntington's Disease: Pathogenic Mechanisms and Therapeutic Targets.
Wright Dean J et al. Advances in neurobiology 2017 1593-128 -
What do we know about Late Onset Huntington's Disease?
Chaganti Sai S et al. Journal of Huntington's disease 2017 6(2) 95-103 -
Prioritising Causal Genes at Type 2 Diabetes Risk Loci.
Grotz Antje K et al. Current diabetes reports 2017 Sep 17(9) 76 -
Mechanisms of Type 2 Diabetes Risk Loci.
Gaulton Kyle J et al. Current diabetes reports 2017 Sep 17(9) 72 -
Finding the Right Medication: Gene Test May Help Treat Depression,
by Shamard Charles, M.D. and Lauren Dunn, NBC News, August 7, 2017
Ethics/Policy/Law
-
Controlling the signal: Practical privacy protection of genomic data sharing through Beacon services.
Wan Zhiyu et al. BMC medical genomics 2017 Jul 10(Suppl 2) 39 -
Genome Editing
National Human Genome Research Institute, 2017 -
Editing embryos Could you? Would you? Should you? Views from Genetic Counsellors
A Middleton, Sanger Institute, UK, August 3, 2017 -
Precision medicine, health disparities, and ethics: the case for disability inclusion.
Sabatello Maya et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Aug -
PRESAGE: PRivacy-preserving gEnetic testing via SoftwAre Guard Extension.
Chen Feng et al. BMC medical genomics 2017 Jul 10(Suppl 2) 48
Practice
-
A primer to clinical genome sequencing.
Priest James R et al. Current opinion in pediatrics 2017 Aug -
Gene Editing Could Stop Cancer, Diabetes and Bioterrorism: An Interview With CRISPR Scientist Jennifer Doudna
J Firger, Newsweek, August 5, 2017 -
Gene Editing for Designer Babies? Highly Unlikely, Scientists Say
P Belluck, New York Times, August 3, 2017 -
Help wanted in biotech: Demand for genetic counselors exploding
CNBC, August 4, 2017 -
Medicine Is Getting More Precise
For White People
R Arthur, Five Thirty Eight, August 2, 2017 -
Can Gene Editing Actually Do That?
H Murphy, New York Times, August 4, 2017 -
Beyond the Status Quo: 5 Strategic Moves to Position State and Territorial Public Health Agencies for an Uncertain Future.
Fraser Michael, et al. Journal of public health management and practice : JPHMP 0 0 0. (5) 543-551
Heart, Lung, Blood and Sleep Diseases
-
Ancestry, Telomere Length, and Atherosclerosis Risk.
Benetos Athanase et al. Circulation. Cardiovascular genetics 2017 Jun 10(3)
Newborn Screening
-
Newborn screening for severe combined immune deficiency (SCID) saves lives and money: a cost-effective public health policy
SD Grosse, CDC Blog Post, 2016 -
Newborn Screening for Primary Immunodeficiency Diseases: The Past, the Present and the Future
J King et al, International Journal of Neonatal Screening 2017, 3(3), 19
Pharmacogenomics
-
Exploring public genomics data for population pharmacogenomics.
Lakiotaki Kleanthi et al. PloS one 2017 12(8) e0182138 -
Systematic evaluation of commercial pharmacogenetic testing in psychiatry: a focus on CYP2D6 and CYP2C19 allele coverage and results reporting.
Bousman Chad A et al. Pharmacogenetics and genomics 2017 Aug
Reproductive Health
-
11 Organizations Urge Cautious but Proactive Approach to Gene Editing
Medical, Research, and Counseling Groups Issue Statement on Germline Genome Editing
American Society for Human Genetics, August 3, 2017 -
Commit to talks on patient data and public health.
Parry Vivienne, et al. Nature 2017 0 0. (7666) 137 -
Supporting Women's Autonomy in Prenatal Testing.
Johnston Josephine et al. The New England journal of medicine 2017 Aug 377(6) 505-507 -
Correction of a faulty gene in human embryos
Science Mag, August 2, 2017 -
The SEeMORE strategy: single-tube electrophoresis analysis-based genotyping to detect monogenic diseases rapidly and effectively from conception until birth.
Cariati Federica et al. Clinical chemistry and laboratory medicine 2017 Aug
Funding
-
NIH Awards $18.9M to Fund Clinical Genomics Consortium,
Genome Web, August 8, 2017 -
NIH accelerates the use of genomics in clinical care- New funding awards focus on diverse and underserved populations.
NIH News, August 7, 2017