Published on 05/19/2016
Human Genomics across the Lifespan
Birth Defects and Child Health
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Weve known for 50 years what causes sickle cell disease. Wheres the cure?
Stat News, May 2016 -
From Individualized Treatment of Sickle Cell Pain to Precision Medicine: A 40-Year Journey.
Ballas Samir K et al. Journal of clinical medicine research 2016 May 8(5) 357-60 -
Attitudes about the use of internet support groups and the impact among parents of children with Cornelia de Lange syndrome.
Cacioppo Cara N et al. American journal of medical genetics. Part C, Seminars in medical genetics 2016 May -
Increase of Telomere Length by a Sex Hormone
NEJM Video, May 18, 2016 -
UK Groups Pilot Pediatric Gene Test.
et al. Cancer discovery 2016 May -
Perceptions and Discourses Relating to Genetic Testing: Interviews with People with Down Syndrome.
Barter Barbara et al. Journal of applied research in intellectual disabilities : JARID 2016 May -
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.
Eggermann Katja et al. European journal of human genetics : EJHG 2016 May
Cancer
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Applying public health screening criteria: how does universal newborn screening compare to universal tumor screening for Lynch syndrome in adults with colorectal cancer?
Cragun Deborah et al. Journal of genetic counseling 2015 Jun 24(3) 409-20 -
Use of panel tests in place of single gene tests in the cancer genetics clinic.
Yorczyk A et al. Clinical genetics 2015 Sep 88(3) 278-82 -
Creation of a network to promote universal screening for Lynch syndrome: the LynchSyndrome Screening Network.
Mange Sarah et al. Journal of genetic counseling 2015 Jun 24(3) 421-7 -
Breast cancer risk prediction using a polygenic risk score in the familial setting: a prospective study from the Breast Cancer Family Registry and kConFab.
Li Hongyan et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 May -
PO-04 - A new genetic risk score for predicting venous thromboembolic events in cancer patients receiving chemotherapy.
Martín A J Muñoz et al. Thrombosis research 2016 Apr 140 Suppl 1S177-8 -
A Genetic Lung Cancer Susceptibility Test may have a Positive Effect on Smoking Cessation.
Kammin Tammy et al. Journal of genetic counseling 2015 Jun 24(3) 522-31 -
Lynch Syndrome Screening Network
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Adding family history to faecal immunochemical testing increases the detection of advanced neoplasia in a colorectal cancer screening programme.
Kallenberg F G J et al. Alimentary pharmacology & therapeutics 2016 May -
Patients' Preferences for Genomic Diagnostic Testing in Chronic Lymphocytic Leukaemia: A Discrete Choice Experiment.
Buchanan James et al. The patient 2016 May -
Evaluation of the Relationship Between Family History of Breast Cancer and Risk Perception and Impacts on Repetition of Mammography.
Khoshravesh Sahar et al. Asian Pacific journal of cancer prevention : APJCP 2016 17 Spec No.135-41
Chronic Disease
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Low utilization of prenatal and pre-implantation genetic diagnosis in Huntington disease - risk discounting in preventive genetics.
Schulman J D et al. Clinical genetics 2015 Sep 88(3) 220-3 -
Risk factors and biomarkers of age-related macular degeneration.
Lambert Nathan G et al. Progress in retinal and eye research 2016 May -
The Application of Genetic Risk Scores in Age-Related Macular Degeneration: A Review.
Cooke Bailey Jessica N et al. Journal of clinical medicine 2016 5(3) -
The genetics of bone mass and susceptibility to bone diseases.
Karasik David et al. Nature reviews. Rheumatology 2016 Apr -
Osteoporosis and Bone Mass Disorders: From Gene Pathways to Treatments.
Rivadeneira Fernando et al. Trends in endocrinology and metabolism: TEM 2016 May 27(5) 262-81 -
22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium.
Baig Sheharyar S et al. European journal of human genetics : EJHG 2016 May -
Advanced Diagnostic Genetic Testing In Inherited Retinal Disease:Experience from a Single Tertiary Referral Centre in the UK National Health Service.
Khan K et al. Clinical genetics 2016 May -
A Cost-Effective Mutation Screening Strategy for Inherited Retinal Dystrophies.
Barandika Olatz et al. Ophthalmic research 2016 May -
Congruence-Incongruence Patterns in Alpha-1 Antitrypsin Deficiency Couples' Genetic Determinist Beliefs and Perceived Control over Genes: Implications for Clinical and Public Health Genomic Communication.
Parrott Roxanne L et al. Journal of genetic counseling 2015 Jun 24(3) 532-40 -
Genetic explanations, discrimination and chronic illness: A qualitative study on hereditary haemochromatosis in Germany.
Manz Ulrike et al. Chronic illness 2016 May
Ethics/Policy/Law
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Ethical considerations in biobanks: how a public health ethics perspective sheds new light on old controversies.
Virani Alice Hawkins et al. Journal of genetic counseling 2015 Jun 24(3) 428-32
Practice
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Increasing participation in genomic research and biobanking through community-based capacity building.
Cohn Elizabeth Gross et al. Journal of genetic counseling 2015 Jun 24(3) 491-502 -
Can precision medicine help prevent diseases?
Harvard School of Public Health, May 2016 -
Building local capacity for genomics research in Africa: recommendations from analysis of publications in Sub-Saharan Africa from 2004 to 2013.
Adedokun Babatunde O et al. Global health action 2016 931026 -
Patient and interest organizations' views on personalized medicine: a qualitative study.
Budin-Ljøsne Isabelle et al. BMC medical ethics 2016 17(1) 28 -
Public Health Genomics: the essential part for good governance in public health.
Brand Angela et al. International journal of public health 2016 May -
Recommendations for the integration of genomics into clinical practice.
Bowdin Sarah et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 May -
Public health genetic counselors: activities, skills, and sources of learning.
McWalter Kirsty M et al. Journal of genetic counseling 2015 Jun 24(3) 438-51 -
Building towards precision medicine: empowering medical professionals for the next revolution.
McGrath Scott et al. BMC medical genomics 2016 9(1) 23 -
Guide and Position of the International Society of Nutrigenetics/Nutrigenomics on Personalised Nutrition: Part 1 - Fields of Precision Nutrition.
Ferguson Lynnette R et al. Journal of nutrigenetics and nutrigenomics 2016 May 9(1) 12-27 -
Phenome-Wide Association Studies as a Tool to Advance Precision Medicine.
Denny Joshua C et al. Annual review of genomics and human genetics 2016 May -
Communicating Disease-Specific Knowledge to Patients: An Overlooked Aspect of Personalized Medicine.
Wallner Lauren P et al. Journal of oncology practice / American Society of Clinical Oncology 2016 May -
Introduction to the Special Issue: Public Health Genetics and Genomics.
McWalter Kirsty et al. Journal of genetic counseling 2015 Jun 24(3) 375-80 -
Aligning policy to promote cascade genetic screening for prevention and early diagnosis of heritable diseases.
George Rani et al. Journal of genetic counseling 2015 Jun 24(3) 388-99 -
Genetic counselors and health literacy: the role of genetic counselors in developing a web-based resource about the Affordable Care Act.
Mann Sylvia et al. Journal of genetic counseling 2015 Jun 24(3) 433-7
Heart, Lung, Blood and Sleep Diseases
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Improving the yield of genetic testing in familial hypercholesterolaemia.
Ajufo Ezim et al. European heart journal 2016 May
Newborn Screening
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Genetics professionals' opinions of whole-genome sequencing in the newborn period.
Ulm Elizabeth et al. Journal of genetic counseling 2015 Jun 24(3) 452-63 -
Toward quality improvement in cystic fibrosis newborn screening: Progress and continuing challenges.
Farrell Philip M et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2016 May -
Storage and use of Newborn Screening Blood Specimens for Research: Assessing Public Opinion in Illinois.
Hart Alexa et al. Journal of genetic counseling 2015 Jun 24(3) 482-90 -
Congenital Hypothyroidism Long-Term Follow-up Project: Navigating the Rough Waters of a Multi-Center, Multi-State Public Health Project.
Wintergerst Kupper et al. Journal of genetic counseling 2015 Jun 24(3) 464-72 -
Education and parental involvement in decision-making about newborn screening: understanding goals to clarify content.
Potter Beth K et al. Journal of genetic counseling 2015 Jun 24(3) 400-8 -
Clinical Follow-Up For Duchenne Muscular Dystrophy Newborn Screening: A Proposal.
Kwon Jennifer M et al. Muscle & nerve 2016 May
Pharmacogenomics
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Assessment of pharmacogenetic tests: presenting measures of clinical validity and potential population impact in association studies.
Tonk E C M et al. The pharmacogenomics journal 2016 May
Reproductive Health
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Creation of a National, At-home Model for Ashkenazi Jewish Carrier Screening.
Grinzaid Karen Arnovitz et al. Journal of genetic counseling 2015 Jun 24(3) 381-7 -
Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases.
Plantinga Mirjam et al. European journal of human genetics : EJHG 2016 May
News/ Reviews/Comments
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Huntingtons disease: the new gene therapy that sufferers cannot afford,
by Dara Mohammadi, the Guardian, May 15, 2016 -
Defective breast cancer genes arent just dangerous for women. Theyre also linked to aggressive cancer in men.
By Laurie McGinley, the Washington Post, May 15, 2016 -
Should Researchers Share Genomic Results With Participants Relatives?
By Robert C. Green, the Huffington Post, May 16, 2016 -
ASHG opposes revised EEOC regulations weakening genetic privacy,
EurekAlert, May 16, 2016 -
How do your 20,000 genes determine so many wildly different traits? They multitask.
By Sarah Kaplan, the Washington Post, May 17, 2016 -
A Very Personal Problem,
by Dina Fine Maron, Scientific American, May 17, 2016 -
Many Diseases, Traits Share Same Genetic Variants,
Genome Web, May 16, 2016