A brief survey of the current applications of genomics in primary care medicine and discussion of some of the hurdles of implementing precision medicine into practice. Applications include: genetic carrier screening; non-invasive prenatal testing; diagnostic sequencing in rare idiopathic diseases; genetic predisposition testing; pharmacogenomics and targeted cancer treatment.
Jeanette McCarthy is a genome scientist and leading educator in the field of precision medicine. She spent the early part of her career in industry at Millennium Pharmaceuticals before transitioning to academia. She currently holds adjunct faculty positions at Duke University and UCSF and teaches Genomic and Precision Medicine in the UC system and online. In 2014 she helped launch the first consumer-facing magazine in this field, Genome, where she served as editor-in-chief. She has been designing and delivering custom workshops and courses to international audiences of health care providers, consumers and stakeholders for years and recently co-authored a new book from McGraw Hill Education, Precision Medicine: A Guide to Genomics in Clinical Practice.