Joseph T C Shieh1. 1. Division of Medical Genetics, Department of Pediatrics, Institute for Human Genetics, University of California, San Francisco, San Francisco, California joseph.shieh2@ucsf.edu.
Abstract
BACKGROUND: Genetic data have the potential to impact patient care significantly. In primary care and in the ICU, patients are undergoing genetic testing. Genetics is also transforming cancer care and undiagnosed diseases. Optimal personalized medicine relies on the understanding of disease penetrance. In this article, I examine the complexity of penetrance. METHODS: In this article, I assess how variable penetrance can be seen with many diseases, including those of different modes of inheritance, and how genomic testing is being applied effectively for many diseases. In this article, I also identify challenges in the field, including the interpretation of gene variants. RESULTS: Using advancing bioinformatics and detailed phenotypic assessment, we can increase the yield of genomic testing, particularly for highly penetrant conditions. The technologies are useful and applicable to different medical situations. CONCLUSIONS: There are now effective genome diagnostics for many diseases. However, the best personalized application of these data still requires skilled interpretation.
BACKGROUND: Genetic data have the potential to impact patient care significantly. In primary care and in the ICU, patients are undergoing genetic testing. Genetics is also transforming cancer care and undiagnosed diseases. Optimal personalized medicine relies on the understanding of disease penetrance. In this article, I examine the complexity of penetrance. METHODS: In this article, I assess how variable penetrance can be seen with many diseases, including those of different modes of inheritance, and how genomic testing is being applied effectively for many diseases. In this article, I also identify challenges in the field, including the interpretation of gene variants. RESULTS: Using advancing bioinformatics and detailed phenotypic assessment, we can increase the yield of genomic testing, particularly for highly penetrant conditions. The technologies are useful and applicable to different medical situations. CONCLUSIONS: There are now effective genome diagnostics for many diseases. However, the best personalized application of these data still requires skilled interpretation.
Authors: N M Gallant; K Leydiker; Y Wilnai; C Lee; F Lorey; L Feuchtbaum; H Tang; J Carter; G M Enns; S Packman; H J Lin; W R Wilcox; S D Cederbaum; J E Abdenur Journal: Mol Genet Metab Date: 2017-07-08 Impact factor: 4.797
Authors: Natasha T Strande; Erin Rooney Riggs; Adam H Buchanan; Ozge Ceyhan-Birsoy; Marina DiStefano; Selina S Dwight; Jenny Goldstein; Rajarshi Ghosh; Bryce A Seifert; Tam P Sneddon; Matt W Wright; Laura V Milko; J Michael Cherry; Monica A Giovanni; Michael F Murray; Julianne M O'Daniel; Erin M Ramos; Avni B Santani; Alan F Scott; Sharon E Plon; Heidi L Rehm; Christa L Martin; Jonathan S Berg Journal: Am J Hum Genet Date: 2017-05-25 Impact factor: 11.025
Authors: Fang-Yuan Li; Ayman W El-Hattab; Erawati V Bawle; Richard G Boles; Eric S Schmitt; Fernando Scaglia; Lee-Jun Wong Journal: Hum Mutat Date: 2010-08 Impact factor: 4.878
Authors: Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm Journal: Genet Med Date: 2015-03-05 Impact factor: 8.822
Authors: Kym M Boycott; Ana Rath; Jessica X Chong; Taila Hartley; Fowzan S Alkuraya; Gareth Baynam; Anthony J Brookes; Michael Brudno; Angel Carracedo; Johan T den Dunnen; Stephanie O M Dyke; Xavier Estivill; Jack Goldblatt; Catherine Gonthier; Stephen C Groft; Ivo Gut; Ada Hamosh; Philip Hieter; Sophie Höhn; Matthew E Hurles; Petra Kaufmann; Bartha M Knoppers; Jeffrey P Krischer; Milan Macek; Gert Matthijs; Annie Olry; Samantha Parker; Justin Paschall; Anthony A Philippakis; Heidi L Rehm; Peter N Robinson; Pak-Chung Sham; Rumen Stefanov; Domenica Taruscio; Divya Unni; Megan R Vanstone; Feng Zhang; Han Brunner; Michael J Bamshad; Hanns Lochmüller Journal: Am J Hum Genet Date: 2017-05-04 Impact factor: 11.025
Authors: Rebecca M Green; Courtney L Leach; Virginia M Diewert; Jose David Aponte; Eric J Schmidt; James M Cheverud; Charles C Roseman; Nathan M Young; Ralph S Marcucio; Benedikt Hallgrimsson Journal: Dev Dyn Date: 2019-09-14 Impact factor: 3.780
Authors: Tamara S Roman; Stephanie B Crowley; Myra I Roche; Ann Katherine M Foreman; Julianne M O'Daniel; Bryce A Seifert; Kristy Lee; Alicia Brandt; Chelsea Gustafson; Daniela M DeCristo; Natasha T Strande; Lori Ramkissoon; Laura V Milko; Phillips Owen; Sayanty Roy; Mai Xiong; Ryan S Paquin; Rita M Butterfield; Megan A Lewis; Katherine J Souris; Donald B Bailey; Christine Rini; Jessica K Booker; Bradford C Powell; Karen E Weck; Cynthia M Powell; Jonathan S Berg Journal: Am J Hum Genet Date: 2020-08-26 Impact factor: 11.025