By Tim Welch

A group of families is suing the Minnesota Department of Health (MDH) for violating a 2006 genetic privacy statute that includes an informed consent provision for collecting genetic information.  The plaintiffs allege that MDH has taken blood samples from their newborn babies without their consent, tested the blood for various disorders, kept the blood samples in storage instead of destroying them, and shared the samples with various private entities and hospitals.  The plaintiffs allege that Minnesota state law (Minn. Stat. §13.386) prohibits MDH from "collecting, storing, using, and disseminating blood and genetic information."  In collecting and testing these blood samples, MDH is complying with another Minnesota law (Minn. Stat. §144.125) that requires the mandatory testing of newborns (called "newborn screening") for certain genetic diseases.

Minnesota is not the only state to require the genetic testing of newborn babies for hereditary diseases.  In fact, all states require testing for phenylketonuria (PKU) and congenital hypothyroidism.  Testing for PKU is generally considered justified, since a newborn diagnosed with PKU must immediately follow a strict diet, or suffer irreparable brain damage.  The number of diseases tested for ranges across the country from 4 to 32.  States decide which diseases to test for based on several criteria, including benefit to the newborn, validity and reliability of the test results, and safety and effectiveness of treatment.

A Minnesota law requires hospitals "to arrange to have administered to every infant or child in its care tests for heritable and congenital disorders according to subdivision 2 and rules prescribed by the state commissioner of health."  But this law also contains a provision whereby parents can opt-out of the testing per written request.  Parents can elect to have the testing be done, but stipulate that the samples be destroyed within 24 months of testing use.  The law also states that the testing institutions shall inform the parents that the blood samples may be retained by MDH, but does not require written consent to retain the samples.

However, a Minnesota genetic privacy law (Minn. Stat. §13.386) prohibits the "collection, storage, use, and dissemination of genetic information" without the "written informed consent" of the individual (in the case of a newborn baby, it is the parents who must provide the written informed consent).  To remedy the discrepancy between the two laws, Minnesota State Representative Paul Thissen has introduced a bill (H.F. 1341) that would exempt newborn screening from the genetic privacy law.  However, the bill would require that MDH destroy the blood samples within 24 hours of testing use unless it acquires written informed consent from the parents of the newborn.

The first priority of newborn screening must be the welfare of the child.  Thus, there are certain hereditary diseases that must be tested for, regardless of the parents' personal beliefs.  If written informed consent were required for the newborn screening of all hereditary diseases — even PKU — then the law would have to recognize that denying a test for PKU can be a valid option.  However, a child should not be subjected to a life of mental retardation that could have been avoided because of his or her parents' personal (or religious) beliefs.  Therefore, it is in the best interests of the child to test for certain hereditary diseases without written informed consent of the parents.

But not all hereditary diseases carry the same risk as PKU.  In some cases, knowing of the existence of a disease in a newborn would not benefit the child, and could even harm it.  Finding out about inherited conditions can negatively affect the relationship of the parent to the child or the parents to each other.  If the diagnosis of the condition will produce no additional benefits in terms of treatment than waiting until symptoms appear, then the diagnosis could cause more harm than good.  Children might be stigmatized or discriminated against later in life.  There is also the chance that tests could register "false positives" or "false negatives."  Affected children could miss out on possible treatment.  Healthy children could face discrimination and be subjected to unnecessary (or even harmful) dietary or medical regimes. 

Rep. Thissen's bill provides a sensible solution to this issue, but it should only exempt the testing of certain hereditary diseases — like PKU — from requiring written informed consent.  As for the second issue — the indefinite use and storage of samples without consent — as is made clear by the Minnesota genetic privacy law, MDH should not be allowed to retain indefinite possession of the samples, use the samples for any other purposes, or disseminate the samples to private entities and hospitals without written informed consent of the parents of the child.  People have a right to know and to decide what will or will not be done with their (or their children's) genetic information.  They also have the right to know and to decide what type of research they (or their children) will participate in.  Newborn screening can save lives, but it should not be used as an excuse to do research on people without their consent.