Communicating new knowledge on previously reported genetic variants

Genetics in Medicine

Volumn 14, Issue 8, 2012, Pages 713-719

  Aronson, Samuel J ^a,b   Clark, Eugene H ^a,b   Varugheese, Matthew ^a,b   Baxter, Samantha ^a   Babb, Lawrence J ^a,b   Rehm, Heidi L ^a,c  

^a LABORATORY FOR MOLECULAR MEDICINE   (United States)

^b PARTNERS HEALTHCARE   (United States)

^c BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

clinical decision support; electronic health record; GeneInsight; genetic reports; knowledge base; report updating; variant classification

Indexed keywords

ARTICLE; DNA SEQUENCE; ELECTRONIC MEDICAL RECORD; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; HEALTH CARE PERSONNEL; HUMAN; INFORMATION TECHNOLOGY; INTERPERSONAL COMMUNICATION; KNOWLEDGE;

EID: 84864656289     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2012.19     Document Type: Article

References (7)

1. Lander ES. Initial impact of the sequencing of the human genome. Nature 2011;470:187-197
2. Caleshu C, Day S, Rehm HL, Baxter S. Use and interpretation of genetic tests in cardiovascular genetics. Heart 2010;96:1669-1675
3. Aronson SJ, Clark EH, Babb LJ, et al. The GeneInsight Suite: a platform to support laboratory and provider use of DNA-based genetic testing. Hum Mutat 2011;32:532-536
4. Hirschhorn K, Fleisher LD, Godmilow L, et al. Duty to re-contact. Genet Med 1999; 1:171-172
5. Richards CS, Bale S, Bellissimo DB, et al. ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet Med 2008; 10:294-300
6. Worthey EA, Mayer AN, Syverson GD, et al. Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet Med 2011; 13:255-262
7. Kohane IS, Taylor PL. Multidimensional results reporting to participants in genomic studies: getting it right. Sci Transl Med 2010;2:37cm19