Louanne Hudgins, chief of medical genetics at Lucile Packard Children’s Hospital Stanford recently outlined some guidelines for direct-to-consumer genetic testing for children. “I strongly advise parents against whole-genome testing for their children unless performed in the context of a medical evaluation following formal counseling regarding its utility, limitations and possible unrelated findings.”
Context is everything. Direct-to-consumer medical advice is always dangerous when it’s not coming from a medical doctor. But some of the rules Hudgins outlined when she co-authored the American College of Medical Genetics Statement on Direct-to-Consumer Genetic Testing apply to all in-depth genomic sequencing, including Whole Exome. Many of the points made are valid concerns, but some are thinking too small.
“Consider the long-term privacy of your child’s (and your own) health information” is fantastic general advice, but should not prevent a parent from sequencing their child if given the opportunity. The labs that process and store samples are under strict federal regulation, in accordance with CLIA and HIPAA, that protect patient privacy. In addition, NAG takes privacy very seriously. Our technical team has great expertise in data security, including a PhD whose dissertation was on private databases. The servers that house and process the raw genomic information are extremely secure.
The article states, “genome tests often identify sequence variants associated with adult-onset disorders,” and suggests that being aware of these risks may cause undue anxiety about the future. While it’s true most of the information revealed by a wide-scope test will be in adult-onset diseases, it fails to recognize that the information revealed that will directly impact a child is most often time-sensitive and holds huge implications for his or her health. Also, knowing the risks for adult onset diseases can help the parents and their doctor structure a personalized health plan. One that isn’t any more complex than a normal child, but perhaps that patient’s general physician pays closer attention to blood pressure, muscle development, or insulin count.
The guidelines in question are specifically about direct-to-consumer genomic tests, and in that light, much of what is laid out is well meaning. Genomic testing is most valuable when in a medical context. Having a doctor order the test and use it to help guide treatment is essential. Hudgins puts it well when she “suggests working directly with a medical care provider who understands the utility and limitations of the testing and who can interpret the results.” This is why NAG has constructed a solution specifically for physicians. Our genomic report presents the findings in a way in which it’s easy to understand the impact variants can have on the patient’s health. By providing a solution that is easy to integrate, and allows doctors everywhere to utilize genomic medicine, is what separates NAG from other tests out there.