Genomic Newborn Screening: Are We Ready?

Elizabeth H. Dorfman; Robert C. Green, MD, MPH


December 18, 2012

In This Article

Addressing the Data Deluge From Whole Genome Sequencing

Ms. Dorfman: I have a few questions that relate to this deluge of data that would be generated if whole genome sequencing were used in newborn screening. As you just touched upon, there are certain sequencing results that may not meet the reportability criteria for newborn screening but that are clinically useful and actionable at some point in the tested individual's life, one example being the discovery of a pathogenic BRCA mutation. How do you think such results should be handled?

Dr. Green: I think we are in a moment of tremendous transition about such things and are transitioning on several fronts at the same time. First, sources of genetic risk information are becoming affordable and widely available. Second, we are in the midst of a generational social change where privacy concerns are evolving. In previous dialogues, privacy concerns and respect for an individual's right not to know may have driven a great deal of the decision-making around these issues. I think these perspectives are changing. Third, I believe we are changing in terms of our reliance on learned intermediaries. For example, we are moving from a society that relies on doctors to explain and even decide things for us to a society in which individuals expect to be partners in decision-making. I think all of these forces together will change the ethical perspective about whether and when to receive genetic risk information, and the default mode for handling certain types of information, such as a pathogenic BRCA mutation, may turn out to now be disclosure rather than nondisclosure.

Ms. Dorfman: I'd like to revisit whether parents should have the ability to access some or all of the data over and above that which was related to imminent harm. Do you think that the same evolution that you just described is taking place with regard to genetic testing in children, where there are some fairly established tenets of not testing for adult-onset conditions? What systems would need to be in place to enable this type of access?

Dr. Green: There are some established tenets at this time that suggest we should not test children for adult-onset conditions, but I do not believe that these will be sustained in the face of parents who are determined to learn such information. In an ideal world, parents would have the ability to access any and all data about their child. They would do so within a framework in which they were fully educated about the choices that they could make and the medical and psychological implications of those choices within a medical system that was skilled at managing genomic information, preferably backed up by decision support in a fully integrated electronic medical care system. Our current system is far from ideal, but I believe that is the direction we are heading.

Ms. Dorfman: Whole genome sequence data could have tremendous potential research value; however, secondary research use of residual newborn screening specimens has recently come under public scrutiny about how the use of publicly funded public health data for research purposes should be balanced against the rights of citizens from whom the data were collected.[5] How do you see this debate being reconciled?

Dr. Green: Blood spots collected for newborn screening and stored in state laboratories are already of extraordinary research value, but their use has been hampered because parents have not explicitly given consent to use them for research. State laboratories are concerned that research on anonymized samples may raise resistance among citizens to the entire program, encouraging refusals and putting infants at risk.

Probably the only way this tension will be reconciled is for citizens to have greater understanding of the program and of its research value along with the safeguards that are put in place for privacy.[6] One could imagine a tiered system in which certain screening tests are fully mandated, while external research use of samples is separately agreed to by the parent at the time of the screening. However, this turns every heel stick into a research consent process by a huge army of variably trained clinical personnel, so that is not entirely satisfactory either. I recognize this tension, but I am not sure there is a path forward that fully satisfies both perspectives.