Family Health History | CDC

Family Health History | CDC

Family Health History and the Holidays

This week, we highlight the importance of family health historyfor your own health across the lifespan.

During the holiday weekend and family gatherings, use our family health history tool to collect and share your family health history with your doctor.

Clostridium difficile [NEW TOPIC PAGE]

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Last Posted: Sep 01, 2019

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• Clostridioides difficile : diagnosis and treatments.
  Guery Benoit et al. BMJ (Clinical research ed.) 2019 Aug l4609
• Host immune markers distinguish C. difficile infection from asymptomatic carriage and non-C. difficile diarrhea 
  Kelly CP, et al. Clin Infect Dis, Apr 26, 2019.
• Whole genome sequencing of toxigenic C. difficile in asymptomatic carriers: insights into possible role in transmission.
  Halstead Fenella D et al. The Journal of hospital infection 2018 Oct
• Local Coverage Determination (LCD): Foodborne Gastrointestinal Panels Identified by Multiplex Nucleic Acid Amplification (NAATs) (L37709)
  The U.S. Centers for Medicare & Medicaid Services
• New class of precision antimicrobials redefines role of Clostridium difficile S-layer in virulence and viability.
  Kirk Joseph A et al. Science translational medicine 2017 Sep (406)
• Donor microbes persist two years after fecal transplant to treat C. difficile infection
  Science Mag, June 13, 2017
• Laboratory Testing of Donors and Stool for Fecal Microbiota Transplantation for Recurrent C. difficile Infection.
  Woodworth Michael H et al. Journal of clinical microbiology 2017 Jan
• Effect of Detecting and Isolating Clostridium difficile Carriers at Hospital Admission on the Incidence of C difficile Infections: A Quasi-Experimental Controlled Study.
  Longtin Yves et al. JAMA internal medicine 2016 Apr
• Breakthroughs in the treatment and prevention of Clostridium difficile infection
  LK. Kociolek et al, Nature Reviews Gastroenterology, February 2016
• Diagnosis of Clostridium difficile Infection Treat the Patient, Not the Test
  ER Dubberke et al. JAMA Internal Medicine, September 8, 2015

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HIV & AIDS [NEW TOPIC PAGE]

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Last Posted: Sep 01, 2019

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• Personal Genetic Information about HIV: Research Participants' Views of Ethical, Social, and Behavioral Implications.
  Boyce Angie et al. Public health genomics 2019 Aug 1-10
• A Tissue Sample From 1966 Held Traces of Early HIV- To understand the virus’s history, a team worked to reconstruct its genome from a time before anyone knew the virus existed. 
  E Yong, the Atlantic, August 2019
• Harnessing digital data and data science to achieve 90-90-90 goals to end the HIV epidemic.
  Strathdee Steffanie A et al. Current opinion in HIV and AIDS 2019 Aug
• Pharmacy Data as an Alternative Data Source for Implementation of a Data to Care Strategy.
  Byrd Kathy K et al. Journal of acquired immune deficiency syndromes (1999) 2019 Sep 82 Suppl 1S53-S56
• A short-term assessment of nascent HIV-1 transmission clusters among newly diagnosed individuals using envelope sequence-based phylogenetic analyses.
  Kafando Alexis et al. AIDS research and human retroviruses 2019 Aug
• How Big Data Science Can Improve Linkage and Retention in Care.
  Rana Aadia I et al. Infectious disease clinics of North America 2019 Sep 33(3) 807-815
• Antiretroviral Drugs for Treatment and Prevention of HIV Infection in Adults: 2018 Recommendations of the International Antiviral Society-USA Panel.
  Saag Michael S et al. JAMA 2018 320(4) 379-396
• Transmission Dynamics of HIV Subtype A in Tel Aviv, Israel: Implications for HIV Spread and Eradication.
  Grossman Zehava et al. Open forum infectious diseases 2019 Jul (7)
• Targeting HIV/HCV Coinfection Using a Machine Learning-Based Multiple Quantitative Structure-Activity Relationships (Multiple QSAR) Method.
  Wei Yu et al. International journal of molecular sciences 2019 Jul 20(14)
• Near full genome characterization of HIV-1 unique recombinant forms in Cameroon reveals dominant CRF02_AG and F2 recombination patterns.
  Banin Andrew N et al. Journal of the International AIDS Society 2019 Jul (7) e25362

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Genetic risk score [NEW TOPIC PAGE]

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Last Posted: Sep 01, 2019

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• Polygenic Prediction of Substance Use Disorders in Clinical and Population Samples
  PB Barr et al, BioRXIV, August 2019
• Association of a Primary Open-Angle Glaucoma Genetic Risk Score With Earlier Age at Diagnosis.
  Fan Bao Jian et al. JAMA ophthalmology 2019 Aug
• Polygenic Risk Scores: From Discovery to Implementation
  NHLBI May 23-24, 2019 Workshop Summary
• Assessment of Polygenic Architecture and Risk Prediction based on Common Variants Across Fourteen Cancers
  Y Zhan et al, BioRXIV preprint, August 9, 2019
• Evaluation of phenotyping errors on polygenic risk score predictions
  R Li et al, BioRXIV preprints, August 4, 2019
• Low coverage whole genome sequencing enables accurate assessment of common variants and calculation of genome-wide polygenic scores
  JR Homburger et al, BioxRIV preprints, July 31, 2019
• Towards clinical utility of polygenic risk scores 
  SA Lambert et al, Hum Mol Genetics, July 31, 2019
• A Weighted Genetic Risk Score Based on Four APOE-Independent Alzheimer's Disease Risk Loci May Supplement APOE E4 for Better Disease Prediction.
  Zhang Chunyu et al. Journal of molecular neuroscience : MN 2019 Jul
• Genetic risk scores for diabetes diagnosis and precision medicine.
  Udler Miriam S et al. Endocrine reviews 2019 Jul
• Use of Genetic Variants Related to Antihypertensive Drugs to Inform on Efficacy and Side Effects.
  Gill Dipender et al. Circulation 2019 Jul 140(4) 270-279

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Rare Diseases - Rare Diseases PHGKB -

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Rare Diseases

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Last Posted: Aug 12, 2019

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• Insight into genetic predisposition to chronic lymphocytic leukemia from integrative epigenomics.  
  Speedy Helen E et al. Nature communications 2019 Aug (1) 3615
• What to Tell a Parent Who Worries a Young Child Has Autism.  
  Estes Annette et al. JAMA psychiatry 2019 Aug
• Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA.  
  Grati Francesca Romana et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Aug
• A mini-review and implementation model for using ataluren to treat nonsense mutation Duchenne muscular dystrophy.  
  Landfeldt Erik et al. Acta paediatrica (Oslo, Norway : 1992) 2019 Feb 108(2) 224-230
• A Phase 3 Randomized Trial of Voxelotor in Sickle Cell Disease.  
  Vichinsky Elliott et al. The New England journal of medicine 2019 Aug 381(6) 509-519
• Assessing the barriers to cardiac care in carriers of Duchenne and Becker muscular dystrophy.  
  Eekhoff Lauren et al. Journal of genetic counseling 2019 Aug
• Changes in Bone Mineral Density After Prophylactic Bilateral Salpingo-Oophorectomy in Carriers of a BRCA Mutation.  
  Kotsopoulos Joanne et al. JAMA network open 2019 Aug 2(8) e198420
• European expert consensus statement on therapeutic goals in Fabry disease.  
  Wanner Christoph et al. Molecular genetics and metabolism 2018 124(3) 189-203
• High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR.  
  Czibere Ludwig et al. European journal of human genetics : EJHG 2019 Jul
• Identification of Waardenburg Syndrome and the Management of Hearing Loss and Associated Sequelae: A Review for the Pediatric Nurse Practitioner.  
  Ringer Jonathan et al. Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners 2019 Jul
• Inherited Cardiac Arrhythmias and Channelopathies.  
  Kline Jessica et al. The Medical clinics of North America 2019 Sep 103(5) 809-820
• Merkel Cell Carcinoma, Version 1.2018, NCCN Clinical Practice Guidelines in Oncology.  
  Bichakjian Christopher K et al. Journal of the National Comprehensive Cancer Network : JNCCN 2018 Jun 16(6) 742-774
• miR-142-3p as a novel biomarker for predicting poor prognosis in renal cell carcinoma patients after surgery.  
  Peng Xiqi et al. The International journal of biological markers 2019 Aug 1724600819866456
• Outcomes of Endoscopic Surveillance in Individuals With Genetic Predisposition to Hereditary Diffuse Gastric Cancer.  
  Jacobs Michelle F et al. Gastroenterology 2019 157(1) 87-96
• Precision Medicine for Idiopathic Hypersomnia.  
  Arnulf Isabelle et al. Sleep medicine clinics 2019 Sep 14(3) 333-350
• Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations.  
  Kazachkov Mikhail et al. Respiratory medicine 2018 14137-46
• The German National Registry of Primary Immunodeficiencies (2012-2017).  
  El-Helou Sabine M et al. Frontiers in immunology 2019 101272
• Transfer of embryos with positive results following preimplantation genetic testing for monogenic disorders (PGT-M): experience of two high-volume fertility clinics.  
  Besser Andria G et al. Journal of assisted reproduction and genetics 2019 Jul
• Screening for Pancreatic Cancer: US Preventive Services Task Force Reaffirmation Recommendation Statement.  
  et al. JAMA 2019 Aug (5) 438-444
• 18 F-FDG PET/CT Radiomic Analysis with Machine Learning for Identifying Bone Marrow Involvement in the Patients with Suspected Relapsed Acute Leukemia.  
  Li Hebei et al. Theranostics 2019 9(16) 4730-4739

Breast cancer [NEW TOPIC PAGE]

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Last Posted: Sep 01, 2019

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• Pathogenic Germline Variants in Patients With Metastatic Breast Cancer.
  Stuttgen Kelsey et al. JAMA oncology 2019 Aug
• Population frequencies of pathogenic alleles of BRCA1 and BRCA2: analysis of 173 Danish breast cancer pedigrees using the BOADICEA model.
  Terkelsen Thorkild et al. Familial cancer 2019 Aug
• Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: Updated Evidence Report and Systematic Review for the US Preventive Services Task Force.
  Nelson Heidi D et al. JAMA 2019 322(7) 666-685
• Risk versus benefit of chemoprevention among raloxifene and tamoxifen users with a family history of breast cancer.
  Anderson Chelsea et al. Cancer prevention research (Philadelphia, Pa.) 2019 Aug
• US Preventive Services Task Force Breast Cancer Recommendation Statement on Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer.
  Newman Lisa et al. JAMA surgery 2019 Aug
• Germline pathogenic variants in BRCA1, BRCA2, PALB2 and RAD51C in breast cancer women from Argentina.
  Cerretini Roxana et al. Breast cancer research and treatment 2019 Aug
• Precision medicine: PI3K targeting in advanced breast cancer.
  Rocca Andrea et al. Breast cancer research and treatment 2019 Aug
• Case-Only Analysis of Gene-Environment Interactions Using Polygenic Risk Scores.
  Meisner Allison et al. American journal of epidemiology 2019 Aug
• Artificial Intelligence Treatment Decision Support For Complex Breast Cancer Among Oncologists With Varying Expertise.
  Xu Fengrui et al. JCO clinical cancer informatics 2019 Aug 31-15
• Breast cancer risk assessment: Evaluation of screening tools for genetics referral.
  Himes Deborah O et al. Journal of the American Association of Nurse Practitioners 2019 Aug

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Gene therapy [NEW TOPIC PAGE]

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Last Posted: Sep 01, 2019

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• Gene Therapy for Choroideremia-Progress and Remaining Questions.
  Duncan Jacque L et al. JAMA ophthalmology 2019 Aug
• Important Considerations in Modeling the Cost-Effectiveness for the First Food and Drug Administration-Approved Gene Therapy and Implications for Future One-Time Therapies.
  Buessing Marric et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2019 Aug 22(8) 970-971
• Long QT Syndrome: Genetics and Future Perspective.
  Wallace Eimear et al. Pediatric cardiology 2019 Aug
• Mom says she'll fight for world's most expensive drug for daughter, costs $2 million
  AJC, August 22, 2019
• Emerging non-genetic therapies for sickle cell disease.
  Carden Marcus A et al. Haematologica 2019 Aug
• Analytic Considerations in Applying a General Economic Evaluation Reference Case to Gene Therapy.
  Drummond Michael F et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2019 22(6) 661-668
• Innovative Therapies for Cystic Fibrosis: The Road from Treatment to Cure.
  Cabrini Giulio et al. Molecular diagnosis & therapy 2019 23(2) 263-279
• Recent progress in translational cystic fibrosis research using precision medicine strategies.
  Cholon Deborah M et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2018 17(2S) S52-S60
• This Drug Will Save Children’s Lives. It Costs $2 Million.
  NY Times editorial board, August 13, 2019
• Progress and challenges of gene therapy for Pompe disease.
  Ronzitti Giuseppe et al. Annals of translational medicine 2019 Jul 7(13) 287

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Cystic fibrosis [NEW TOPIC PAGE]

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Last Posted: Sep 01, 2019

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• Prenatal genetic testing for cystic fibrosis: a systematic review of clinical effectiveness and an ethics review.
  Kessels Sharon J M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Aug
• Vertex sinks on reports of deaths of patients taking cystic fibrosis drug
  D Garde, Stat News, August 28, 2019
• Emerging non-genetic therapies for sickle cell disease.
  Carden Marcus A et al. Haematologica 2019 Aug
• Exercise testing and exercise training within cystic fibrosis centres across Australia and New Zealand: what is considered important and what is current practice?
  Sawyer Abbey et al. Internal medicine journal 2019 Aug
• Innovative Therapies for Cystic Fibrosis: The Road from Treatment to Cure.
  Cabrini Giulio et al. Molecular diagnosis & therapy 2019 23(2) 263-279
• Recent progress in translational cystic fibrosis research using precision medicine strategies.
  Cholon Deborah M et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2018 17(2S) S52-S60
• Advances In Gene Therapy For Cystic Fibrosis Lung Disease.
  Yan Ziying et al. Human molecular genetics 2019 Jul
• Making precision medicine personal for cystic fibrosis.
  Manfredi Candela et al. Science (New York, N.Y.) 2019 365(6450) 220-221
• Positive Newborn Screening for Cystic Fibrosis, What to Do Next?
  Kumar Prawin et al. Indian journal of pediatrics 2019 Jul
• Next generation microbiology and cystic fibrosis diagnostics: are we there yet?
  Moser Claus et al. Current opinion in pulmonary medicine 2018 11 (6) 599-605

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