The American College of Medical Genetics and Genomics (ACMG) is having their annual meeting this week in North Carolina. One of the major discussion points is: when a patient has their genome sequenced to look for disease-causing mutations for a specific disease in a clinical setting, what do you do with the 'secondary-findings' or other mutations unrelated to the disease in question that have been found? This is an incredibly difficult and convoluted question to answer.
For example in the clinical setting, say a patient's genome is being sequenced to test if their genome contains mutations related to high cholesterol, but in the process other mutations come back positive for Alzhimer's. Should a patient be informed of the 'secondary-finding' information? What if it were a child? Should the child know at a young age that they have a high predisposition to Alzhimer's?
In a research setting, there currently exist hundreds of large sequencing studies which sequence the genomes of many individuals suffering from a particular disease in an effort to study the etiology of that disease. When patients participate in these sequencing projects, thousands of mutations are often found which may or may not be related to a wide spectrum of diseases. When researchers find mutations related to other diseases, should the researchers be responsible of reporting the information to the patient? If the individual's genome is sequenced a second time at a later point in the future and mutations related to diseases that were not known before, but are now known are found, should the researcher be responsible of tracking down the individual to inform them? If a patient was informed at one point in time to have a deleterious mutation, but in the future that mutation is no longer considered to be deleterious, what should happen? At the American Society of Human Genetics (ASHG) annual meeting this fall in Montreal, I attended a similar forum that discussed many of these questions. The conversation can only be described as "intense and very heated". There were individuals who were adamantly in support of informing patients of secondary-findings and individuals who were adamantly against it in both the research and clinical-based setting.
The ACMG is releasing a policy statement which will be finalized this summer in support of reporting secondary findings to patients in the clinical setting. The policy says only disease-causing mutations with a high-prevelance for a treatable condition will be included for this clinical-based testing. Mutations for diseases with no known treatments will not be included in the list. I will be interested to see how we as a society decide to deal with all the other issues that will come out of this policy. A few of the issues include: How we will relay the information to the patients? Who is responsible to relay the information? Who will help the patients interpret these variants? Who is responsible for updating the patient on new information in the future? Of course there are also the legal issues related to the patient's privacy?
There's a professor at A&M who runs a Health Promotion and Genomics lab, which is meant to teach health educators how to use genomic screening beneficially without harming underserved populations. I think this is an argument I'll have to have stakes in one day, but I haven't learned enough about both sides. Any reading recs?
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