Monday, November 25, 2013
23andMe's Anne Wojcicki recently appeared on 'CBS This Morning' to discuss how personal genomic profiling can provide information to empower individuals to be "healthy at 100". After watching this segment, we are left wondering about several key issues:
- Does the type/quality of data obtained from 23andMe really give us enough information to be healthy at 100? While this might be the goal, we have yet to see evidence that demonstrates how this type of information can lead to better overall health. What measurable outcomes have shown that people can use this information to be “healthy at 100”? Or even healthier one year after learning the results? We would argue that our current knowledge of SNP analysis (the technology used by 23andMe) is insufficient to provide reliable estimates for disease risk. There have even been reports in which a sample from the same client was sent to several leading SNP-based companies for analysis, and the results included widely divergent risk estimates with companies reporting “above average,” “below average,” and “average” risks for the same condition in the same individual.
- Even if we can use SNP analysis to make accurate inferences about common disease risk, it is doubtful this information will be clinically useful in the majority of cases as most diseases are multifactorial and genetics is only one component contributing to risk. Wojcicki’s claim that this testing may have the power to allow a doctor to inform his patient he is “3 years away from being diabetic” is a gross overestimation of the power of this test. Are there data to show that SNPs are any better at predicting diabetes risk than an individual’s personal and family history, BMI, fasting blood sugar, diet and exercise habits?
- Wojcicki makes no mention of the limitations in this type of testing and does not reference other forms of genetic testing such as single gene tests, which often have defined risk associations and management recommendations. For example, it is entirely possible for a woman to receive a SNP-based result that states “low risk for breast cancer” and subsequently test positive for a genetic mutation, not included in 23andMe testing, that confers a risk of breast cancer of up to 85%.
- Beyond the vague and misleading information provided by 23andMe, there are also significant ethical ramifications that are not addressed. For example, 23andMe does not address the ethical issues around testing children for adult-onset disorders despite the field’s general recommendations against such testing.