In their first days of life, 98 percent of the 4.3 million babies born annually in the United States undergo a form of genetic screening. Doctors in all fifty states and the District of Columbia collect blood samples from these infants and send the specimens to laboratories to be tested for a variety of metabolic conditions. Unlike many medical tests, the information from newborn screening tests are obtained and maintained by the state. It has been estimated that every year, between 4,000 and 5,000 infants are correctly identified as having serious genetic disorders, including some that would result in disability or death if they weren’t flagged so treatment could begin. But even this number cannot capture the value of screening to the individual parents whose children have been able to lead normal, healthy lives because of early identification.
While there may be clear benefits to such testing, newborn screening is often conducted in a manner that raises questions about the associated privacy and consent procedures. Some states do not give parents the ability to decline screening. Others, including California, take newborn blood samples as a matter of course unless the parents object in writing-yet few parents are aware of these screening programs and their consent options. Indeed a handful of states, including California, deem such blood samples to be the property of the state.
With respect to sample storage and use, there is also little transparency regarding storage procedures or the use of the samples after they have been screened. Even though parents want informed consent to store and use the samples, many states (including California) retain residual blood spots in biobanks and allow them to be used for research long after initial testing. States, such as California, do not have clearly articulated policies about consent for the storage and use of samples and do not effectively communicate policies to parents even though under California law parents have the right to opt out of such storage and research in writing. The absence of clearly articulated and communicated consent policies is particularly problematic because of the mismatch between the promise of maintaining residual sample databases and the actual benefits generated by such storage, which may be less dramatic than their statements would suggest.
For more information, read our special report Newborn Screening in America: Problems and Policies at: http://www.councilforresponsiblegenetics.org/pageDocuments/WNMAKEPP1P.pdf