Neonatal bloodspots

In the wake of these court decisions, the Newborn Screening Saves Lives Reauthorization Act of 2014 was signed into law in December. While it renewed federal funding for state screening programs, an amendment introduced right before passage has classified research on de-identified newborn bloodspots as research on human subjects, necessitating parental informed consent.
Many are concerned that this change will have considerable repercussions for this research. The state of Michigan has required parental consent for use of newborn bloodspots in research since 2010, and consent to use for research is obtained from only about 60% of parents.

Given that 99.5% of newborns still receive screening in Michigan, this suggests that consent is a considerable barrier to research on bloodspots. A 2012 study looked at newborn screening in Europe where many countries do require informed consent for the use of bloodspots in research. While countries not requiring consent had 100% of samples screened available for research, countries with consent requirements varied widely in the availability of samples for research with some finding only 20% to 30% of parents willing to consent. For public health officials, this raises considerable concerns if consent for bloodspot use in research will now be required in all jurisdictions in the U.S...

If the consent requirement does significantly reduce the availability of bloodspots for research, the public might expect a corresponding reduction in the benefits of this research. Research aids in the identification of new screening tests especially for very rare disorders that benefit from population-wide bloodspots, free from selection bias and also providing useful epidemiologic data on these disorders.

Bloodspot research has also aided diagnosis of diseases such as childhood leukemia, and it played a vital role in the recognition of and subsequent prevention of mother to newborn transmission of HIV in the early 1990s.

Epidemiology of fetal toxic environmental exposures, such as mercury or nicotine, can be determined by bloodspot research to help improve public education programs on how to best avoid toxins during pregnancy.

Metabolic and genetic testing of bloodspots following unexpected infant death can help define the underlying disorder for family counseling or population surveillance.

Finally, bloodspot research is used to provide quality assurance for screening tests and confirm test reliability...

Once again, the public must determine where this balance lies for use of newborn bloodspots, recognizing the benefits that research provides while ensuring a mechanism for parents to meaningfully opt out of bloodspot storage and research.

Most importantly, whatever decision is made, it must ensure continued participation in screening, recognizing the profound benefit this provides to the newborn, without which a treatable and potentially devastating disease may not be diagnosed.

See:  http://www.medpagetoday.com/Blogs/CohensBrainBits/52101?xid=nl_mpt_DHE_2015-06-13&eun=g906366d0r