Newborn Genetic Testing Programs Confront Genetic Privacy Concerns

One of the flashpoints in ongoing controversies over genetic testing is the state newborn screening programs which mandate the collection of blood samples from babies to be tested for a panel of genetic and congenital disorders. These dried blood samples, which represent a fairly comprehensive biological repository of the population, have been collected since the 1960’s and can be characterized today as a “biobank.” As informational privacy is increasingly recognized as a right in the era of genetic-based medicine, the older newborn screening laws are colliding with modern genetic privacy laws. Many states lack any procedures for obtaining parental consent for the retention or future use of the dried blood samples. This was the basis for two lawsuits, in Minnesota and Texas, in which parents challenged the practice of indefinite retention of the newborn blood samples as a violation of laws guaranteeing genetic privacy or parental consent. Settlement of the Texas lawsuit resulted in the destruction of 5 million samples that had been collected since 2002, but were retained without parental consent. In the Minnesota lawsuit, which pitted the state’s Genetic Privacy Act against the newborn screening law, the court decision will at least result in the destruction of samples that were retained without parental consent since the ruling in 2011, and may result in the destruction of the approximately one million samples stored in the biobank since 1997.

The American College of Medical Genetics (ACMG) has asserted that the newborn samples can be retained with sufficient privacy protections, and that the retention of samples provides a source of material for the development and evaluation of future tests: "Such destruction of dried blood spots would significantly and negatively impact the quality and development of newborn screening programs.” While actual test results are reported to parents, according to the ACMG, the use of these samples for future research in a privacy-protective manner can be done by “use of either anonymized (no individual identifying link is retained) or deidentified (individual identity link retained and privacy and confidentiality maintained under the stewardship of the public health programs) dried blood spots.”  But that's the technical implementation. These lawsuits challenge whether parental consent has been obtained and provide a cautionary tale for other jurisdictions. Thus, we may see more attempts by the states to formalize consent protocols in the newborn screening programs in order to capture the emerging concerns over genetic privacy while forestalling the possibility that existing biobanks which developed in an earlier era but hold a wealth of population-wide medical information might be destroyed through court order. It’s clear that the absence of procedural (and now legal) rigor in these programs, coupled with increasing public sensitivity to all kinds of data privacy (including genetic) will undermine confidence and participation in these programs. Moreover, as newborn screening programs present the most ubiquitous contact that the general public has with genetic testing, the care and diligence in their administration certainly shapes the more generalized public view of genetic testing and its promises or drawbacks.