Because people may not realize exactly what information they will get from their genome sequence, genetic counselors or people with similar expertise are usually employed to talk to the people receiving the information. Ideally, the potential subjects are educated at the outset about what it means to have their genome sequenced, and then again just prior to when the results are returned to them, in case new questions have arisen. This way, they will have had time to think about the implications of what might be discovered and what it would mean to their families.

Regarding their own personal genome results, possible scenarios include learning that (1) they are likely to be at high risk for certain diseases that may or may not be actionable; (2) they are likely to be a carrier for certain genetic diseases in which one copy of a gene is mutated and the other is fine, and thus, their children could be at risk for a disease; and (3) their ancestry or parentage is not what they thought. They should also be told that (1) genomic sequencing is not 100% accurate; (2) different types of results may be reported by different genomic sequence providers, some of whom are willing to report only exact matches to established disease-causing variants, whereas others report every variant that might be predicted to be damaging, even if not yet a known disease-causing variant. Often, other specific information is returned based on the medical or family history of the subject.

As a general rule, the author believes that it is useful to talk to individuals before they receive their report, in order to try to understand exactly what type(s) of information they want, and then tailor the information in the report accordingly. Although some experts argue that subjects often do not understand the consequences of receiving this information and that it may prove to be harmful in ways the subject did not expect, many people (including the author) believe that the fundamental decision lies with the subject—not the counselor, not the physician, not the government. Moreover, if subjects are entitled to know their family history and results of other medical tests, why should genome sequencing be any different?

About Genomic Medicine UK

Genomic Medicine UK is the home of comprehensive genomic testing in London. Our consultant medical doctors work tirelessly to provide the highest standards of medical laboratory testing for personalised medical treatments, genomic risk assessments for common diseases and genomic risk assessment for cancers at an affordable cost for everybody. We use state-of-the-art modern technologies of next-generation sequencing and DNA chip microarray to provide all of our patients and partner doctors with a reliable, evidence-based, thorough and valuable medical service.