ACTUALIZACIÓN MÉDICO-CONTINUADA EN GENÓMICA Y SU IMPACTO EN LA SALUD PÚBLICA || TRATADO CONTINUO DE ENFERMEDADES USUALMENTE "NO COMUNICABLES" - Public Health Genomics Knowledge Base (v1.0)
Health Impact Weekly Scan
About the Genomics & Health Impact Weekly Scan
This weekly update features emerging roles of human genomics, testing and interventions in a wide variety of noncommunicable diseases across the life span, including, birth defects, newborn screening, reproductive health, childhood diseases, cancer, chronic diseases, pharmacogenomics, family health history, guidelines and recommendations. The weekly sweep also includes news, reviews, commentaries, tools and databases.
Human Genomics across the Lifespan
Birth Defects and Child Health
- We’ve known for 50 years what causes sickle cell disease. Where’s 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
- 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
- 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 Diseases
- 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 - The genetics of bone mass and susceptibility to bone diseases.
Karasik David et al. Nature reviews. Rheumatology 2016 Apr
Ethics, Policy and Law
- 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
Genomics in Practice
- 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
Cardiovascular Diseases
- Improving the yield of genetic testing in familial hypercholesterolaemia.
Ajufo Ezim et al. European heart journal 2016 May
Newborn Screening
- 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
Reproductive Health
- 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
Pharmacogenomics
- 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
News/Reviews/Commentaries
- How genetic sequencing can unlock secret DNA mutations — and save lives,
PBS Newshour, May 13, 2016 - Huntington’s disease: the new gene therapy that sufferers cannot afford,
by Dara Mohammadi, the Guardian, May 15, 2016 - Defective ‘breast cancer’ genes aren’t just dangerous for women. They’re 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
CDC-Authored Genomics Publications
- Correction for Pattabiraman and Bopp, Draft Whole-Genome Sequences of Nine Enterotoxigenic Escherichia coli Serogroup O6 Strains.
Pattabiraman Vaishnavi, Bopp Cheryl A Genome announcements 2016 0 0. (3) . - Cold Chain and Virus Free chloroplast-made Booster Vaccine to Confer Immunity Against Different Polio Virus Serotypes.
Chan Hui-Ting, Xiao Yuhong, Weldon William C, Oberste Steven M, Chumakov Konstantin, Daniell Henry Plant biotechnology journal 2016 5 0. . - Hepatitis B Reverse Seroconversion and Transmission in a Hemodialysis Center: A Public Health Investigation and Case Report.
Rhea Sarah, Moorman Anne, Pace Robert, Mobley Victoria, MacFarquhar Jennifer, Robinson Edward, Hayden Tonya, Thai Hong, Drobeniuc Jan, Brooks John T, Moore Zack, Patel Priti R American journal of kidney diseases : the official journal of the National Kidney Foundation 2016 5 0. . - Protocol for a population-based molecular epidemiology study of tuberculosis transmission in a high HIV-burden setting: the Botswana Kopanyo study.
Zetola N M, Modongo C, Moonan P K, Click E, Oeltmann J E, Shepherd J, Finlay A BMJ open 2016 0 0. (5) e010046.
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