Human Genomics across the Lifespan || Public Health Genomics Knowledge Base (beta version)

Public Health Genomics Knowledge Base (beta version)

Human Genomics across the Lifespan

• Birth/Child Health
• Cancer
• Chronic Disease
• Ehics/Policy/Law
• Practice
• Newborn Screening
• Pharmacogenomics
• Reproductive Health
• Tools/Databases
• News/ Reviews/Comments
• CDC-Authored Genomics Publications

Birth Defects and Child Health

• Duchenne Muscular Dystrophy: a Survey of Perspectives on Carrier Testing and Communication Within the Family. 
  Hayes Brenna et al. Journal of genetic counseling 2015 Oct

Cancer

• Influence of a 21-Gene Recurrence Score Assay on Chemotherapy Delivery in Breast Cancer. 
  Rutter Charles E et al. Clinical breast cancer 2015 Sep
• Pediatric Cancer Genetics Research and an Evolving Preventive Ethics Approach for Return of Results after Death of the Subject. 
  Scollon Sarah et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2015 Sep 43(3) 529-37
• Does the age of breast cancer diagnosis in first-degree relatives impact on the risk of breast cancer in BRCA1 and BRCA2 mutation carriers? 
  Semple John et al. Breast cancer research and treatment 2015 Oct
• Clinical Application of Multigene Panels: Challenges of Next-Generation Counseling and Cancer Risk Management. 
  Slavin Thomas Paul et al. Frontiers in oncology 2015 5208
• Hereditary breast cancer: an update on risk assessment and genetic testing in 2015. 
  Stuckey Ashley R et al. American journal of obstetrics and gynecology 2015 Aug 213(2) 161-5
• A Family-Centered Model for Sharing Genetic Risk. 
  Daly Mary B et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2015 Sep 43(3) 545-51
• Psychosocial Adjustment in School-age Girls With a Family History of Breast Cancer. 
  Bradbury Angela R et al. Pediatrics 2015 Oct
• Preferences Regarding Return of Genomic Results to Relatives of Research Participants, Including after Participant Death: Empirical Results from a Cancer Biobank. 
  Breitkopf Carmen Radecki et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2015 Sep 43(3) 464-75
• The impact of direct-to-consumer personal genomic testing on perceived risk of breast, prostate, colorectal, and lung cancer: findings from the PGen study. 
  Carere Deanna Alexis et al. BMC medical genomics 2015 8(1) 63
• Real-life decision-making impact of Oncotype DX. 
  Bertelli Gianfilippo et al. Breast cancer research and treatment 2015 Oct
• Patient-centric trials for therapeutic development in precision oncology. 
  Biankin Andrew V et al. Nature 2015 Oct 526(7573) 361-70
• Cancer Genetics Program, 
  ASCO University
• Population genetic testing for cancer susceptibility: founder mutations to genomes. 
  Foulkes William D et al. Nature reviews. Clinical oncology 2015 Oct
• When is Genomic Testing Cost-Effective? Testing for Lynch Syndrome in Patients with Newly-Diagnosed Colorectal Cancer and Their Relatives. 
  Grosse Scott D et al. Healthcare (Basel) 3(4) 860-878
• Initial Results of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer and Lynch Syndrome. 
  Howarth Dt R et al. The American surgeon 2015 Oct 81(10) 941-4
• Germline BRCA1/2 testing practices in ovarian cancer: Current state and opportunities for new directions. 
  Lheureux S et al. Gynecologic oncology 2015 Oct
• Therapeutic Effectiveness of Screening for Multiple Endocrine Neoplasia Type 2A. 
  Machens Andreas et al. The Journal of clinical endocrinology and metabolism 2015 Jul 100(7) 2539-45
• Prognostic Factors for Distress After Genetic Testing for Hereditary Cancer. 
  Voorwinden Jan S et al. Journal of genetic counseling 2015 Oct

Chronic Diseases

• Personalized Cardiovascular Medicine Today: A Food and Drug Administration/Center for Drug Evaluation and Research Perspective. 
  Blaus Alison et al. Circulation 2015 Oct 132(15) 1425-32

Ethics, Policy and Law

• Canadian Research Ethics Board Leadership Attitudes to the Return of Genetic Research Results to Individuals and Their Families. 
  Fernandez Conrad V et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2015 Sep 43(3) 514-22
• International Policies on Sharing Genomic Research Results with Relatives: Approaches to Balancing Privacy with Access. 
  Branum Rebecca et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2015 Sep 43(3) 576-93
• How Much Control Do Children and Adolescents Have over Genomic Testing, Parental Access to Their Results, and Parental Communication of Those Results to Others? 
  Clayton Ellen Wright et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2015 Sep 43(3) 538-44
• Return of Genetic Research Results to Participants and Families: IRB Perspectives and Roles. 
  Beskow Laura M et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2015 Sep 43(3) 502-13
• Genetic Test Results and Disclosure to Family Members: Qualitative Interviews of Healthcare Professionals' Perceptions of Ethical and Professional Issues in France. 
  D' Audiffret Van Haecke Diane et al. Journal of genetic counseling 2015 Oct
• Considerations for Returning Research Results to Culturally Diverse Participants and Families of Decedents. 
  Garrison Nanibaa'A et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2015 Sep 43(3) 569-75
• Mapping the Ethics of Translational Genomics: Situating Return of Results and Navigating the Research-Clinical Divide. 
  Wolf Susan M et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2015 Sep 43(3) 486-501
• INTRODUCTION: Return of Research Results: What About the Family? 
  Wolf Susan M et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2015 Sep 43(3) 437-9
• Returning a Research Participant's Genomic Results to Relatives: Analysis and Recommendations. 
  Wolf Susan M et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2015 Sep 43(3) 440-63

Genomics in Practice

• Medical case reports in the age of genomic medicine 
  Cook MC Clinical & Translational Immunology (2015) 4, e45; October 16
• Scientific research just got easier for genetic counselors (and others)- Genetic Counseling Research - A Practical Guide 
  Stefansdottir V. European Journal of Human Genetics (2015) 23, 1591
• Precision medicine 
  Bahcall O Nature 526, 335 October 15, 2015
• Crowdsourcing gets personal 
  Torr-Brown S. Personal Medicine (2015) 12(5) 443-445
• Patients' Choices for Return of Exome Sequencing Results to Relatives in the Event of Their Death. 
  Amendola Laura M et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2015 Sep 43(3) 476-85
• Building the foundation for genomics in precision medicine. 
  Aronson Samuel J et al. Nature 2015 Oct 526(7573) 336-42
• Genetic Counseling Milestones: A Framework for Student Competency Evaluation. 
  Guy Carrie et al. Journal of genetic counseling 2015 Oct
• Epigenetics in Clinical Practice: Characterizing Patient and Provider Experiences with MTHFR Polymorphisms and Methylfolate. 
  Oberg Erica et al. Journal of nutrigenetics and nutrigenomics 2015 Oct 8(3) 137-150
• Disclosing Secondary Findings from Pediatric Sequencing to Families: Considering the "Benefit to Families". 
  Wilfond Benjamin S et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2015 Sep 43(3) 552-8

Newborn Screening

• Newborn screening for severe combined immune deficiency (technical and political aspects). 
  Kobrynski Lisa et al. Current opinion in allergy and clinical immunology 2015 Oct
• Fiscal implications of newborn screening in the diagnosis of severe combined immunodeficiency. 
  Kubiak Catherine et al. The journal of allergy and clinical immunology. In practice 2(6) 697-702
• Return of Results from Research Using Newborn Screening Dried Blood Samples. 
  Lewis Michelle Huckaby et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2015 Sep 43(3) 559-68
• Newborn bloodspot screening policy framework for Australia. 
  O'Leary Peter et al. The Australasian medical journal 2015 8(9) 292-8
• Newborn hearing screening programme in Belgium: a consensus recommendation on risk factors. 
  Vos Bénédicte et al. BMC pediatrics 2015 15(1) 160

Reproductive Health

• Public Perceptions of Recessive Carrier Testing in the Preconception and Prenatal Periods. 
  Shiroff Jennifer J et al. Journal of obstetric, gynecologic, and neonatal nursing : JOGNN / NAACOG 2015 Oct
• How do patient perceived determinants influence the decision-making process to accept or decline preimplantation genetic screening? 
  Gebhart Marty Brown et al. Fertility and sterility 2015 Oct

Pharmacogenomics

• Pharmacogenomics in the clinic. 
  Relling Mary V et al. Nature 2015 Oct 526(7573) 343-50

Tools and Databases

• The Genotype and Phenotype (GaP) registry: a living biobank for the analysis of quantitative traits. 
  Gregersen Peter K et al. Immunologic research 2015 Oct

News/Reviews/Commentaries

• Success against blindness encourages gene therapy researchers, 
  by Heidi Ledford, Nature News, October 21, 2015
• Genomics moves from the lab to the doctor's office, 
  by Diana Brazzell, Huffington Blog, October 15, 2015
• What is precision medicine, and why does it matter? 
  By Christina Sumners, Texas A&M Health Science Center, October 15, 2015
• 23andMe Will Resume Giving Users Health Data, 
  by Andrew Pollack, New York Times, October 21, 2015
• Are the kids all right? When breast cancer runs in the family, 
  by Mary Brophy Marcus, CBS News, October 19, 2015
• The Decade of the Connectome: An Interview with Connectomics Founder Olaf Sporns, 
  by Micah Allen, PLOS Neuro Blog, October 15, 2015
• Family history of cancer? Gene testing can indicate your risk, 
  WHIO, October 16, 2015
• Treating cancer with precision medicine and genetic evaluations: Charis Eng, Joanne Ngeow and J. Kevin Hicks (Opinion), 
  Cleveland.com, October 18, 2015
• Genomic Contributions to Breast Cancer Disparities, 
  by Dr. Tanya Keenan, The Cancer Genome Atlas, NIH, October 2015
• Meeting my genome: This expensive test still isn’t for everyone, 
  by Meredith Salisbury, Techonomy, October 14, 2015
• Huntington's disease patients get first dosing in historic Isis Pharmaceuticals’ gene-silencing drug trial, 
  at Risk for Huntington's Disease Blog, October 19, 2015
• Charting Genetic Variation Across the Globe, 
  NIH Research Matters, October 19, 2015
• The Social Face of Genetics at the American Society of Human Genetics Meeting, 
  Bio IT World, October 14, 2015
• The Roots of BRCA1 Mutations for Ashkenazi Jews, 
  by C. Claiborne Ray, New York Times, October 12, 2015
• California's Massive Microarray SNP Genotyping Project Processed Genetic Data from More Than 100,000 Volunteers and Characterized 70 Billion Genetic Variants in 14 months, 
  Dark Daily, October 19, 2015

All News

CDC-Authored Genomics Publications

• Novel citation-based search method for scientific literature: application to meta-analyses. 
  Janssens A Cecile J W, Gwinn M BMC medical research methodology 2015 0 0. (1) 84.
• Characterization of the Proteins Associated with Caulobacter crescentus Bacteriophage CbK Particles. 
  Callahan Courtney T, Wilson Kiesha M, Ely Bert Current microbiology 2015 10 0. .
• Molecular Evidence of Sexual Transmission of Ebola Virus. 
  Mate Suzanne E, Kugelman Jeffrey R, Nyenswah Tolbert G, Ladner Jason T, Wiley Michael R, Cordier-Lassalle Thierry, Christie Athalia, Schroth Gary P, Gross Stephen M, Davies-Wayne Gloria J, Shinde Shivam A, Murugan Ratnesh, Sieh Sonpon B, Badio Moses, Fakoli Lawrence, Taweh Fahn, de Wit Emmie, van Doremalen Neeltje, Munster Vincent J, Pettitt James, Prieto Karla, Humrighouse Ben W, Ströher Ute, DiClaro Joseph W, Hensley Lisa E, Schoepp Randal J, Safronetz David, Fair Joseph, Kuhn Jens H, Blackley David J, Laney A Scott, Williams Desmond E, Lo Terrence, Gasasira Alex, Nichol Stuart T, Formenty Pierre, Kateh Francis N, De Cock Kevin M, Bolay Fatorma, Sanchez-Lockhart Mariano, Palacios Gustavo The New England journal of medicine 2015 10 0. .
• Sabin vaccine reversion in the field: a comprehensive analysis of Sabin-like poliovirus isolates in Nigeria. 
  Famulare Michael, Chang Stewart, Iber Jane, Zhao Kun, Adeniji Johnson A, Bukbuk David, Baba Marycelin, Behrend Matthew, Burns Cara C, Oberste M Steven Journal of virology 2015 10 0. .
• Genome Sequence of a Urease-Positive Campylobacter lari Strain. 
  Meinersmann Richard J, Bono James L, Lindsey Rebecca L, Genzlinger Linda L, Loparev Vladimir N, Oakley Brian B Genome announcements 2015 0 0. (5) .
• Pharmacogenetic Allele Nomenclature: International Workgroup Recommendations for Test Result Reporting. 
  Kalman Lisa V, Agúndez José A G, Appell Malin Lindqvist, Black John Logan, Bell Gillian C, Boukouvala Sotiria, Bruckner Carsten, Bruford Elspeth, Bruckner Carsten, Caudle Kelly, Coulthard Sally, Daly Ann K, Del Tredici Andria L, den Dunnen Johan T, Drozda Katarzyna, Everts Robin, Flockhart David, Freimuth Robert, Gaedigk Andrea, Hachad Houda, Hartshorne Toinette, Ingelman-Sundberg Magnus, Klein Teri E, Lauschke Volker M, Maglott Donna R, McLeod Howard L, McMillin Gwendolyn A, Meyer Urs A, Müller Daniel J, Nickerson Deborah A, Oetting William S, Pacanowski Michael, Pratt Victoria M, Relling Mary V, Roberts Ali, Rubinstein Wendy S, Sangkuhl Katrin, Schwab Matthias, Scott Stuart A, Sim Sarah C, Thirumaran Ranjit K, Toji Lorraine H, Tyndale Rachel, van Schaik Ron H N, Whirl-Carrillo Michelle, Yeo Kiang-Teck J, Zanger Ulrich M Clinical pharmacology and therapeutics 2015 10 0. .
• Rabovirus: a proposed new picornavirus genus that is phylogenetically basal to enteroviruses and sapeloviruses. 
  Ng Terry Fei Fan, Sachsenröder Jana, Reuter Gábor, Knowles Nick J, Delwart Eric, Johne Reimar Archives of virology 2015 10 0. (10) 2569-75