Published on 10/06/2016
Human Genomics across the Lifespan
Birth Defects and Child Health
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Review of Spinal Muscular Atrophy (SMA) for Prenatal and Pediatric Genetic Counselors.
Carré Amanda et al. Journal of genetic counseling 2016 Feb 25(1) 32-43 -
Communication of Psychiatric Risk in 22q11.2 Deletion Syndrome: A Pilot Project.
Hart Sarah J et al. Journal of genetic counseling 2016 Feb 25(1) 6-17 -
In Search of Autism's Roots.
Gross Liza et al. PLoS biology 2016 Sep 14(9) e2000958 -
Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.
Baric Ivo et al. Journal of inherited metabolic disease 2016 Sep -
Zika and Guillain-Barré Syndrome
Cancer
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Impact of next-generation sequencing on the clinical diagnosis of pancreatic cysts.
Jones Martin et al. Gastrointestinal endoscopy 2016 Jan 83(1) 140-8 -
Impact of Screening on Survival in Familial Adenomatous Polyposis.
Koskenvuo Laura et al. Journal of clinical gastroenterology 2016 Jan 50(1) 40-4 -
Importance of Comprehensive Care Including Genetic Counseling for Ovary Carcinoma Patients by Gynecologic Oncologist.
Kim M K et al. Journal of minimally invasive gynecology 22(6S) S164 -
How close are we to standardised extended RAS gene mutation testing? The UK NEQAS evaluation.
Richman Susan D et al. Journal of clinical pathology 2016 Sep -
Streamlined genetic education is effective in preparing women newly diagnosed with breast cancer for decision making about treatment-focused genetic testing: a randomized controlled noninferiority trial.
Quinn Veronica F et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Sep -
The genomic landscape of breast cancer and its interaction with host immunity.
Luen Stephen et al. Breast (Edinburgh, Scotland) 2016 Oct 29241-50 -
Breast Cancer Patients Have Greatly Benefited from the Progress in Molecular Oncology.
Groner Bernd L et al. PLoS biology 2016 Sep 14(9) e2000314 -
Limits to Personalized Cancer Medicine.
Tannock Ian F et al. The New England journal of medicine 2016 Sep 375(13) 1289-94 -
The Cancer Moonshot needs a heavy dose of computational infrastructure
Tech Crunch, September 2016 -
Cancer immunotherapy is moving fast. Heres what you need to know.
L McGinley, Washington Post, September 28, 2016 -
Breast Cancer Awareness
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GENESIS: a French national resource to study the missing heritability of breast cancer.
Sinilnikova Olga M et al. BMC cancer 2016 1613 -
Challenges in molecular testing in non-small-cell lung cancer patients with advanced disease.
Hiley Crispin T et al. Lancet (London, England) 2016 Sep 388(10048) 1002-11 -
Genetic screening in young women diagnosed with endometrial cancer.
Pecorino Basilio et al. Journal of gynecologic oncology 2016 Sep e4 -
A Genomic Classifier Impacts Treatment Decision Making Among Patients With Biochemical Recurrence After Radical Prostatectomy: Results From the Multicenter Prospective PRO-IMPACT Study.
Perrapato S D et al. International journal of radiation oncology, biology, physics 2016 Oct 96(2S) E222-E223 -
Exploring clinicians' attitudes about using aspirin for risk reduction in people with Lynch Syndrome with no personal diagnosis of colorectal cancer.
Chen Yanni et al. Familial cancer 2016 Sep -
Integration of next-generation sequencing in clinical diagnostic molecular pathology laboratories for analysis of solid tumours; an expert opinion on behalf of IQN Path ASBL.
Deans Zandra C et al. Virchows Archiv : an international journal of pathology 2016 Sep
Chronic Disease
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KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Screening for Polycystic Kidney Disease.
Rangan Gopala K et al. Seminars in nephrology 2015 Nov 35(6) 557-564.e6 -
KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Psychosocial Care.
Tong Allison et al. Seminars in nephrology 2015 Nov 35(6) 590-594.e5 -
A Psycho-Educational Intervention for People with a Family History of Depression: Pilot Results.
Meiser Bettina et al. Journal of genetic counseling 2016 Sep
Ethics/Policy/Law
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The limits of traditional approaches to informed consent for genomic medicine.
May Thomas et al. HEC forum : an interdisciplinary journal on hospitals' ethical and legal issues 2014 Sep 26(3) 185-202 -
Perspective for the development of companion diagnostics and regulatory landscape to encourage personalized medicine in Japan.
Tazawa Yoshiaki et al. Breast cancer (Tokyo, Japan) 2016 Jan 23(1) 19-23 -
"Not Tied Up Neatly with a Bow": Professionals' Challenging Cases in Informed Consent for Genomic Sequencing.
Tomlinson Ashley N et al. Journal of genetic counseling 2016 Feb 25(1) 62-72 -
Comparison of Informed Consent Preferences for Multiplex Genetic Carrier Screening among a Diverse Population.
Reeves Ashley et al. Journal of genetic counseling 2016 Feb 25(1) 166-78 -
Predictive Genetic Testing of Children for Adult-Onset Conditions: Negotiating Requests with Parents.
Fenwick Angela et al. Journal of genetic counseling 2016 Sep -
Genome privacy: challenges, technical approaches to mitigate risk, and ethical considerations in the United States.
Wang Shuang et al. Annals of the New York Academy of Sciences 2016 Sep -
Current state of genomic policies in healthcare among EU member states: results of a survey of chief medical officers.
Mazzucco W et al. European journal of public health 2016 Sep -
Next generation sequencing: Coping with rare genetic diseases in China.
Cram David S et al. Intractable & rare diseases research 2016 Aug 5(3) 140-4 -
Ethical issues and best practice in clinically based genomic research: Exeter Stakeholders Meeting Report.
Carrieri D et al. Journal of medical ethics 2016 Sep
Practice
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The Life Course Perspective: a Guide for Genetic Counselors.
Hamilton Rebekah J et al. Journal of genetic counseling 2016 Feb 25(1) 44-8 -
Biospecimen Sharing Among Hispanic Women in a Safety-Net Clinic: Implications for the Precision Medicine Initiative.
Nodora Jesse N et al. Journal of the National Cancer Institute 2017 Feb 109(2) -
Why big pharma wants to collect 2 million genomes
H Ledford, Nature News, September 28, 2016 -
The Preciseand WildGenomics Revolution
S Campbell, The Pulse, October 3, 2016 -
Experiences and attitudes of residents regarding a community-based genome cohort study in Japan: a population-based, cross-sectional study.
Miyamoto Keiko et al. BMC medical genomics 2016 914 -
Test Pricing and Reimbursement in Genomic Medicine: Towards a General Strategy.
Vozikis Athanassios et al. Public health genomics 2016 Sep
Heart, Lung, Blood and Sleep Diseases
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Systems Medicine as an Emerging Tool for Cardiovascular Genetics.
Haase Tina et al. Frontiers in cardiovascular medicine 2016 327 -
Disease genetics: Under pressure - genetics of hypertension.
Koch Linda et al. Nature reviews. Genetics 2016 Sep -
Familial hypercholesterolemia among unselected contemporary patients presenting with first myocardial infarction: Prevalence, risk factor burden, and impact on age at presentation.
Mortensen Martin Bødtker et al. Journal of clinical lipidology 10(5) 1145-1152.e1 -
Familial hypercholesterolemia in a large ambulatory population: Statin use, optimal treatment, and identification for advanced medical therapies.
Knickelbine Thomas et al. Journal of clinical lipidology 10(5) 1182-7 -
US physician practices for diagnosing familial hypercholesterolemia: data from the CASCADE-FH registry.
Ahmad Zahid S et al. Journal of clinical lipidology 10(5) 1223-9
Newborn Screening
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Newborn screening and the era of medical genomics.
Francescatto Ludmila et al. Seminars in perinatology 2015 Dec 39(8) 617-22
Pharmacogenomics
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Cytochrome P-450 gene and drug interaction analysis in patients referred for pharmacogenetic testing.
Hocum Brian Thomas et al. American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists 2016 Jan 73(2) 61-7 -
Personalizing supportive care in oncology patients using pharmacogenetic-driven treatment pathways.
Andersen Rebecca L et al. Pharmacogenomics 2016 Mar 17(4) 417-34 -
Impact of a personal CYP2D6 testing workshop on physician assistant student attitudes toward pharmacogenetics.
O'Brien Travis J et al. Pharmacogenomics 2016 Mar 17(4) 341-52
Reproductive Health
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Attitudes in Patients with Autosomal Dominant Polycystic Kidney Disease Toward Prenatal Diagnosis and Preimplantation Genetic Diagnosis.
Swift Oscar et al. Genetic testing and molecular biomarkers 2016 Sep -
Screening for chromosomal abnormalities using combined test in the first trimester of pregnancy.
Park Soo Yeon et al. Obstetrics & gynecology science 2016 Sep 59(5) 357-66