Informed Consent, Benefits, & Risks

Informed written consent is a requirement for all medical procedures. No physician or hospital can conduct genetic testing on an individual without informed written consent. Yet 50 state laws mandate newborn genetic testing which not only tests the child, but to a certain extent, the mother and the entire family bloodline.

Informed consent would not only respect the rights of individuals, it would also provide an opportunity to fully discuss the potential benefits and risks of newborn genetic testing. The potential benefits of newborn screening relate specifically to early diagnosis and treatment of a newborn genetic disorder.

The potential risks are broader, and dependent on the number of and type of conditions for which children are tested in the future, including adult-onset conditions. Some of the potential risks associated with the newborn genetic testing include:

  • Discovery and permanent recording of asymptomatic traits into the lifelong medical record of the child.
  • Child's genetic testing results registered with the government.
  • Impact on the child's future employment and access to health insurance coverage.
  • Documented long-term anxiety and disruption of false-positive results on the parent-child relationship.
  • Pressure on patients of an affected child to seek prenatal genetic testing in the future or refrain from child-bearing.
  • Child's reaction when he or she reaches adulthood and discovers that genetic testing was done.
  • Violation of a person's right not to know his or her genetic propensities.
  • Lifetime of anxiety about the possibility of a discovered gene leading to a future disorder.
  • Linking of child's genetic results with other government databases (birth certificate, vaccinations, lead screening).
  • Long-term government monitoring of a child found with a disorder through newborn screening.

A few of the potential risks of State storage and government/corporate research include:

  • Future decoding of the child's genome.
  • Government identification and tracking of individuals with genes or traits of interest.
  • Government and corporate discovery of paternity discrepancies.
  • Government ownership of the child's DNA and genetic code.
  • Future legislative decisions about access to and use of the child's DNA.
  • Future access by law enforcement authorities.
  • Corporate and government genetic patents and profits from the child's genetic code.
  • Objectionable research related to racial differences, personal behaviors, cloning, chimeras, etc.
  • Acquisition of genetic data on other family members.
  • Research on the child before the child has the opportunity to grow up and say 'no.'
  • End of genetic privacy.

Begrudging appreciation for the efforts of Citizens' Council on Health Care to inform parents of newborn and to secure parent consent rights was clear in Amy Gaviglio's comments during her panel's Q&A session on December 7, 2009. Her comments addressed the Minnesota Department of Health's efforts to communicate to the public the Department's perspective on newborn genetic screening, blood spot storage and genetic research:

"I actually am one of the health communication people at MDH who struggles with this all the time. The other side is THE VOICE of newborn screening in Minnesota, without a doubt. And how can we as a state advocate for ourselves without appearing combative? Because despite how frustrating a lot of this discussion has been in our state,  I think a lot of really great things have come out of it. We are without a doubt better educators than we were prior to this. Our website is better. We reach parents more. We are looking at prenatal education. So, you know, it’s been a necessary evil, I think, but you know, it is hard. It’s hard to look at marketing...

Yet, explicit, informed, written parent consent is not welcome. When called on at the end of December 2009 forum's  two-day newborn screening conference to summarize the conclusions and ideas of their small group discussion on parent consent, Ms. Gaviglio reported:

“Now when we moved to the fun topic of informed consent for storage and use what we ultimately decided as a group is that we recognize that there is a push to informed consent but we really feel that informed dissent is appropriate right now. But what’s really needed is an educational push; that we need a broad educational effort to mitigate the need for further discussions about informed consent. So, we realize that’s not so much low hanging fruit as it is a very grand idea.

“But we really talked about how can we get the concept of newborn screening into the purview of every day life. Can we get newborn screening into Grey’s Anatomy? On House? We want to get it on a Nascar car. The NFL was all about wearing pink for breast cancer. We thought we could get them to wear polka dots, red polka-dots for newborn screening. (laugh) No, but one of the things, we wanted to encourage us to go on the offensive with education...So our recommendation is to really look at spearheading a coordinated educational effort to get newborn screening in the public’s eye on a regular basis.”

These advocates of continuing to leave parents in the dark appear to understand that this may no longer be possible. Sharon Terry, CEO of the Genetic Alliance, discussing at the December 2009 forum why there has been little effort to date to inform the public on the storage on use of newborn blood, said:

"...

people didn’t think that the sort of naysayers, the privacy advocates would gain any traction

. And I think there is coming about in regular conversation now a sense that in fact they will gain traction because the press really likes these kind of more exciting and dynamic sorts of people to quote and then also the privacy advocates around health information technology in general are converging with these people and that there is a lot of conversation that could in fact be quelling some important public health programs like health information exchange and the blood spot storage issue. So I think the scene is changing and we’re getting a different flavor these days."