Common diseases and traits eg. tendency to balding can be investigated by genomic SNP (single-nucleotide-polymorphism) analysis of healthy people as well as people with diseases. Many associations are not valid and raise or reduce risk of conditions by very small amounts. Colon cancer, diabetes, cardiovascular disease are examples of polygenic conditions with SNPs which if present, correlate to higher patient risk . At the moment different screening companies seem to return different results eg. the same sample sent to 3 different labs may return different results. A family history is a much more powerful tool and genomic screening could be potentially damaging. The demand in the future for genetic councelling (or 'genomic' councelling) for patients could become huge in general practice in the future. One example of how SNP analysis could impact care is adjusted PSA based on presence of SNPs in the assessment of prostate cancer. Currently there is a grey-area between when and when not to send for a PSA test (PSA between 2 and 3.9) and watchful waiting is often the management outcome. However if a patient had a SNP profile showing increased risk of prostate cancer, it may be useful to do a biopsy at an earlier stage.
Information from the BMJ
Published 29 October 2009, doi:10.1136/bmj.b4253
Cite this as: BMJ 2009;339:b4253
Clinical Review
A practical guide to interpretation and clinical application of personal genomic screening
Emily Edelman, project director1, Charis Eng, Sondra J and Stephen R Hardis chair of cancer genomic medicine, professor and chair2
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