The question of how and when to report genomic results to patients and informed consent relating to such results is becoming much more complicated and controversial (see: Patients Should Always Receive Their Genomic Information According to Recent Report). This previous note made reference to a statement by the American College of Medical Genetics and Genomics (ACMG) suggesting that patients should always have access to their genomic information. However, the consenting of genetic testing and the return of these results is much more complicated than normal lab testing. This point was emphasized in a recent article (see: Returning Genetic Incidental Findings Without Patient Consent Violates Basic Rights, Experts Say). An excerpt of it is presented below:
Genetic testing has long required patient consent and patients have had a "right not to know" the results. However, as 21st century medicine now begins to use the tools of genome sequencing, an enormous debate has erupted over whether patients' rights will continue in an era of medical genomics....In a [recent] paper..., [the authors] push back against...[the ACMG] recommendations [that patients always have a right to review genomic results], and offer compelling reasons why patient autonomy must remain firmly in place as science advances...."There are many circumstances in which a patient may decline such testing and information, even if the results could open avenues for intervention. The patient may already be battling another disease, such as advanced cancer, or be late in life and see more burden than benefit in added genetic information. The patient may also fear that 'extra' results in their medical record will invite risk of discrimination."....The authors cite long-standing policy discouraging childhood testing for adult-onset conditions. "Delaying testing and return of genetic information not medically useful in childhood allows the child to reach adulthood and then make a choice based on his or her own values...."As the list [of possible genetic tests] expands, so will the scope of testing without consent…."The authors urge the importance of patients' rights, especially in an era of genome sequencing when extensive genetic information can be generated on any patient.
There is certainly no question that a patient has the right to refuse the performance of genomic testing for whatever reason in the first case because of patient autonomy. A second, and perhaps more interesting question. is whether a patient has the right to selectively receive only a portion of the results of such testing. In its consent form, the consumer genetic testing site 23andMe states that the client, once consenting to genomic testing preformed on his oral mucosa cells, does not have the right to refuse to be informed of any of the test results. I can envision a situation, for example, where the client would stipulate the following to the company: inform me about X and Y but do not report any negative health results. This would be a data management nightmare for the company and it appropriately refuses to do so.
Here's what I envision as one of the major problems of patient consent for genomic testing from the perspective of patient autonomy. Many patients, having given consent for genomic testing and the reporting of such results, will not have a firm grasp of exactly what he or she is consenting to. As in the case of 23andMe, such reporting can't be limited solely to good news. So the concept of informed consent, as we understand it, may not be relevant for genomic testing. It is often impossible to "inform" the patient of the potential significance of all of the information that can be measured and interpreted with a DNA sample. We need to replace the idea of informed consent for genomic testing with some new concept that takes into consideration that much of the significance of DNA testing, both now and in the future, is "unknowable" and therefore can't be consented to in the normal way to by a patient.