Neonatal Genetic Sequencing Raises Privacy Concerns
This week, CBS News has reported on the successes of the National Institutes of Health’s BabySeq Project, as well as some of the privacy and discrimination concerns parents have voiced about sequencing their children. The Project, which is part of a $25M (£19M) landmark study by the NIH, is working with parents and newborns at Brigham and Women’s Hospital in Boston, Massachusetts.
In the USA, it is currently required by law for all newborn infants to be granted a blood test with the power to detect around 30 common conditions. The BabySeq Project is an attempt to use the power of next-generation sequencing to enhance neonatal testing with the intention of predicting or diagnosing conditions much earlier. Each participant is sequenced and analysed from roughly 1,800 genetic conditions, including several types of cancer.
To highlight the benefits this kind of testing can provide, CBSN spoke with parents Laura and Kyle Stetson, whose daughter Cora received free DNA testing through the project. The tests identified a partial biotinidase deficiency, for which Cora was asymptomatic and which, if untreated, could have left her with a permanently decreased IQ. Instead, because of the deficiency has been identified so early on, Cora is being given supplementary vitamins to combat the condition without any neurological impact.
But there are ethical considerations to be made too. The first is one that always arises when discussing clinical genomic testing, and that is what should be done about variants of unknown significance or variants for which there is no treatment plan. Next-generation sequencing will identify thousands of variants in any genome, most of which are harmless and many of which will be previously unknown. If clinicians have no evidence concerning a particular variant then they cannot conclude whether or not it will have a negative health impact in the future and thus cannot accurately report its significance.
In other cases, clinicians might identify a variant which increases someone’s risk of a condition for which there is no preventative treatment. If this happens, then there can be uncertainty as to the value of telling the patient about their increased risk.
One issue that CBSN focused on was concern about privacy and discrimination. Any participants in the BabySeq Project have to consent to having their data submitted to a federal database, where it may be used for further research in the future. The worry is that by allowing your child’s genomic information to be shared, it might lead to the child being discriminated against in the future. In particular, there has recently been concern about health insurance companies asking people with genetic risk factors to pay higher premiums for their healthcare.
“We can’t predict what kind of discrimination is going to be occurring by the time your child grows up,” said Robert Green, MD, MPH, Co-Director of the BabySeq Project alongside Alan Beggs, PhD, from Boston Children’s Hospital. “We can’t predict whether there’s some sort of privacy breaches, this information gets out and is used against your child in some sort of future scenario. And we, most importantly, we can’t predict the information’s accurate.”
These concerns haven’t gone unnoticed by the parents of the infants being considered. When speaking with CBSN, Dr. Green revealed that 90% of the parents they had approached had turned down their offer of free sequencing.
“People are distrustful of information gathering. They’re hearing about all these break-ins and hacks,” Dr. Green told CBS. “And I’m afraid they’re turning down the possibility of this information at this time because they just don’t trust the future.”
The BabySeq Project is still on-going. The first publishable results are expected in the next few years and it is hoped that they will be able to help shape the future of clinical genomics for the better.