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From Genomics & Health Impact Scan Database

This database includes published scientific literature on evidence-based translation of genomic discoveries into improved health care and disease prevention that have a potential impact on population health.

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PreMedKB: an integrated precision medicine knowledgebase for interpreting relationships between diseases, genes, variants and drugs. Yu Ying et al. Nucleic acids research 2018 Nov Similar articles in PubMed
DMD Open-access Variant Explorer (DOVE): A scalable, open-access, web-based tool to aid in clinical interpretation of genetic variants in the DMD gene. Bailey Mitchell et al. Molecular genetics & genomic medicine 2018 Nov Similar articles in PubMed
The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria. Helbig Ingo et al. Human mutation 2018 Nov 39(11) 1476-1484 Similar articles in PubMed
Management of Individuals at Increased Hereditary Risk  ASCO, 2018
NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results. Sikkema-Raddatz Birgit et al. Scientific reports 2016 638359 Similar articles in PubMed
Genetic testing and autism: Tutorial for communication sciences and disorders. DeThorne Laura S et al. Journal of communication disorders 2018 May 7461-73 Similar articles in PubMed
Simple and Rapid Method to Obtain High-quality Tumor DNA from Clinical-pathological Specimens Using Touch Imprint Cytology. Amemiya Kenji et al. Journal of visualized experiments : JoVE 2018 Mar (133) Similar articles in PubMed
Precision medicine for your practice: CME and CNE modules for clinical applications of genetic testing Jackson Lab, 2018
Infographic: Genetic testing and research. Vlahovich Nicole et al. British journal of sports medicine 2017 Dec Similar articles in PubMed
Testing for BRCA1/2 Mutations. Sefton Philip et al. JAMA 2017 318(20) 2054 Similar articles in PubMed
ClinVar: improving access to variant interpretations and supporting evidence. Landrum Melissa J et al. Nucleic acids research 2017 Nov Similar articles in PubMed
Development of a communication aid for explaining hypertrophic cardiomyopathy genetic test results. Smagarinsky Yana et al. Pilot and feasibility studies 2017 353 Similar articles in PubMed
Development of a culturally tailored genetic counseling booklet about hereditary breast and ovarian cancer for Black women. Permuth-Wey Jennifer et al. American journal of medical genetics. Part A 2010 Apr 152A(4) 836-45 Similar articles in PubMed
Development of a brochure for increasing awareness of inherited breast cancer in black women. Vadaparampil Susan T et al. Genetic testing and molecular biomarkers 15(1-2) 59-67 Similar articles in PubMed
Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG). Cherry Athena M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jul Similar articles in PubMed
A combination test for detection of gene-environment interaction in cohort studies. Coombes Brandon et al. Genetic epidemiology 2017 Jul 41(5) 396-412 Similar articles in PubMed
New, simple online tool guides genetic testing for Lynch syndrome Dana Farber, May 2017
InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines. Li Quan et al. American journal of human genetics 2017 Feb 100(2) 267-280 Similar articles in PubMed
Using Workflow Modeling to Identify Areas to Improve Genetic Test Processes in the University of Maryland Translational Pharmacogenomics Project. Cutting Elizabeth M et al. AMIA ... Annual Symposium proceedings. AMIA Symposium 2015466-74 Similar articles in PubMed
A curated gene list for reporting results of newborn genomic sequencing. Ceyhan-Birsoy Ozge et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jan Similar articles in PubMed
An openly available online tool for implementing the ACMG/AMP standards and guidelines for the interpretation of sequence variants. Kleinberger Jeffrey et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Nov 18(11) 1165 Similar articles in PubMed
Using needs-based frameworks for evaluating new technologies: an application to genetic tests. Rogowski Wolf H et al. Health policy (Amsterdam, Netherlands) 2015 Feb 119(2) 147-55 Similar articles in PubMed
My46 innovative web-based tool that enables individuals to manage their own genetic testing results.
BRCA Share: A Collection of Clinical BRCA Gene Variants. Beroud Christophe et al. Human mutation 2016 Sep Similar articles in PubMed
Tumor Screening and DNA Testing in the Diagnosis of Lynch Syndrome. Usha Lydia et al. JAMA 2016 Jul 316(1) 93-94 Similar articles in PubMed
GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge. Kirkpatrick Brianne E et al. Human mutation 2015 Oct 36(10) 974-8 Similar articles in PubMed
2013 Review and Update of the Genetic Counseling Practice Based Competencies by a Task Force of the Accreditation Council for Genetic Counseling. Doyle Debra Lochner et al. Journal of genetic counseling 2016 Jun Similar articles in PubMed
Multi-Institutional FASTQ File Exchange as a Means of Proficiency Testing for Next-Generation Sequencing Bioinformatics and Variant Interpretation. Davies Kurtis D et al. The Journal of molecular diagnostics : JMD 2016 May Similar articles in PubMed
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 Similar articles in PubMed
A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation. Hunter Jessica Ezzell et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Apr Similar articles in PubMed
Achieving behaviour change for detection of Lynch syndrome using the Theoretical Domains Framework Implementation (TDFI) approach: a study protocol. Taylor Natalie et al. BMC health services research 2016 16(1) 89 Similar articles in PubMed
Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing. Xue Yuan et al. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Jun 17(6) 444-51 Similar articles in PubMed
Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing. Leo Michael C et al. American journal of medical genetics. Part A 2016 Mar 170(3) 574-82 Similar articles in PubMed
Supporting Parental Decisions About Genomic Sequencing for Newborn Screening: The NC NEXUS Decision Aid. Lewis Megan A et al. Pediatrics 2016 Jan 137 Suppl 1S16-23 Similar articles in PubMed
EHR based Genetic Testing Knowledge Base (iGTKB) Development. Zhu Qian et al. BMC medical informatics and decision making 2015 Nov 15(Suppl 4) S3 Similar articles in PubMed
Database resources of the National Center for Biotechnology Information. et al. Nucleic acids research 2015 Nov Similar articles in PubMed
Conversations with children about DNA and genes using an original children's book. Newcomb Patricia et al. Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners 28(6) 497-506 Similar articles in PubMed
Marginally scientific? Genetic testing of children and adolescents for lifestyle and health promotion Caulfield T, et al. J Law Biosci (2015) November 16
Utility of genetic testing for breast cancer risk, Jackson Laboratory
Impact of a Nurse Navigator on Genomic Testing and Timely Treatment Decision Making in Patients With Breast Cancer. McAllister Kelly A et al. Clinical journal of oncology nursing 2015 Oct 19(5) 510-512 Similar articles in PubMed
ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories. Wang Jinlian et al. Genome Med 2015 7(1) 77 Similar articles in PubMed
A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing. Berg Jonathan S et al. Genet. Med. 2015 Aug 13. Similar articles in PubMed
Improving the efficiency and relevance of evidence-based recommendations in the era of whole-genome sequencing: an EGAPP methods update. Veenstra David L et al. Genet. Med. 2013 Jan 15(1) 14-24 Similar articles in PubMed
A report template for molecular genetic tests designed to improve communication between the clinician and laboratory. Scheuner Maren T et al. Genet Test Mol Biomarkers 2012 Jul 16(7) 761-9 Similar articles in PubMed
ClinGen--the Clinical Genome Resource. Rehm Heidi L, et al. The New England journal of medicine 2015 0 0. (23) 2235-42 Similar articles in PubMed
Guidelines for Audiologists on the Benefits and Limitations of Genetic Testing. Mercer Danielle et al. Am J Audiol 2015 May 20. Similar articles in PubMed
Personalized assessment and management of women at risk for breast cancer in North America. Pruthi Sandhya et al. Womens Health (Lond Engl) 2015 Mar 11(2) 213-24 Similar articles in PubMed
Guidance for patients considering direct-to-consumer genetic testing and health professionals involved in their care: development of a practical decision tool. Similar articles in PubMed
From Observation to Intervention: Development of a Psychoeducational Intervention to Increase Uptake of BRCA Genetic Counseling Among High-Risk Breast Cancer Survivors. Similar articles in PubMed
openSNP--a crowdsourced web resource for personal genomics. Similar articles in PubMed
Refining the structure and content of clinical genomic reports. Similar articles in PubMed
Clinical genomics in the world of the electronic health record. Similar articles in PubMed
Return of incidental findings in genomic medicine: measuring what patients value--development of an instrument to measure preferences for information from next-generation testing (IMPRINT). Similar articles in PubMed
DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome. Similar articles in PubMed
Self-guided management of exome and whole-genome sequencing results: changing the results return model. Similar articles in PubMed
Opportunities for genomic clinical decision support interventions. Similar articles in PubMed
A novel clinician interface to improve clinician access to up-to-date genetic results. Similar articles in PubMed
Genetic testing information standardization in HL7 CDA and ISO13606. Similar articles in PubMed
The Canadian "National Program for hemophilia mutation testing" database: a ten-year review. Similar articles in PubMed
The next controversy in genetic testing: clinical data as trade secrets? Similar articles in PubMed
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. Similar articles in PubMed
Informed consent in direct-to-consumer personal genome testing: the outline of a model between specific and generic consent. Similar articles in PubMed
A risk-benefit analysis of factor V Leiden testing to improve pregnancy outcomes: a case study of the capabilities of decision modeling in genomics. Similar articles in PubMed
The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency. Similar articles in PubMed
Development of a scalable pharmacogenomic clinical decision support service. Similar articles in PubMed
A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes. Similar articles in PubMed
ICO amplicon NGS data analysis: a Web tool for variant detection in common high-risk hereditary cancer genes analyzed by amplicon GS Junior next-generation sequencing. Similar articles in PubMed
A clinician-driven automated system for integration of pharmacogenetic interpretations into an electronic medical record. Similar articles in PubMed
The policy of public health genomics in Italy. Similar articles in PubMed
Chapter 11: challenges in and principles for conducting systematic reviews of genetic tests used as predictive indicators. Similar articles in PubMed