Michele R. Berman, M.D.
Editor, Celebrity Diagnosis
A number of celebrities and other public figures, such as Apple’s Steve Jobs, Google’s Sergey Brin, actress Glenn Close and rocker\reality TV personality Ozzy Osbourne, have had their genomes analyzed for clues to causes and cures of cancer, mental illness and Parkinson ’s disease. Wherever celebrities go, the public often follows and most healthcare providers are ill-prepared to educate and advise their patients about the uses and abuses, the promise and the perils of DNA analysis. Here we provide a brief introduction to medical genomics including some key definitions and resources for further reading.
(Interested in learning even more? Don’t miss the free webinar, Clinical Application of Whole Genome Sequencing, available for playback here!)
No, not really. Traditionally, medical genetics is a subspecialty focused on pediatric-onset, inherited disorders. Today, medical genomics is mostly applied to adults for one of two reasons:
Take for example, analysis of a tumor’s DNA to identify the mutations which have caused or contributed to the cancer in order to determine if there is a targeted therapy available (such as imatinib (Gleevec®) for chronic myelogenous leukemia. Most cancers are not inherited or familial diseases. Therefore most DNA mutations in an individual patient’s tumor genome are acquired, not inherited, and only apply to that patient’s acute disease.
First, ask why they had their genotype done and by which company? Is the company’s laboratory accredited by the College of American Pathologists and does it adhere to CLIA (Clinical Laboratory Improvement Act) quality standards? Is the patient concerned about a medical condition that might run in their family? Are they concerned about their individual risk of contracting a particular disease? Are either of these concerns related to current medical problems? Are they concerned about the efficacy or side effects of a particular medication?
If they are concerned about a particular medication that they are already taking, check the FDA “package insert” or product label. Look for dosing recommendations and contraindications based upon genotype. Examples of two common drugs whose metabolism is affected by genotype are Coumadin® and Plavix®. You can find additional examples here (Table 1, pp. 18-19).
Note: this article was adapted from a previous publication at MedPage Today. For more information about medical genomics, illustrative cases and patient stories, consult the following articles: