Suzanna Schott has been a prenatal and pediatric outreach genetic counselor in New Mexico for the last 4 years. She was trained at JHU-NHGRI, and prior to that was a graphic designer in Atlanta, Georgia, her home town. She is interested in representations of genetics in the media, and is a frequent writer of letters to the editor.
Ms. Elizabeth Cohen
Senior Medical Correspondent
Dear Ms. Cohen,
As a genetic counselor, it is my job to advocate for patients and families, help them interpret complex scientific information, consider the personal and ethical implications of genetic testing, and facilitate difficult medical decision-making. I therefore appreciate your efforts to raise awareness of public health genetic screening practices and potential concerns about privacy and misuse (Elizabeth Cohen, “The government has your baby’s DNA,” cnn.com February 4, 2010.) However, I was very concerned to see serious misinformation in your report about the nature of the screening and the potential risks involved.
I agree that parents have legitimate concerns about consent, privacy and potential misuse of testing samples. Unfortunately, your report provided very few facts or evidence relevant to whether privacy violations and surreptitious testing have actually occurred. Instead, your story sensationalized unrelated and unfounded concerns, which I am afraid will unduly influence families to avoid a test that can actually save lives. Indeed, based on the online public comments, your article has left many readers ready to believe that every aspect of newborn screening is an illicit and irresponsible ploy by the government. I must take issue with three assumptions in your report that I think led to these misunderstandings.
First, you suggest that newborn screening will identify children with diseases that would not otherwise be diagnosed, putting a permanent blemish in the medical record that could have been avoided. Unfortunately, the fact is that the conditions detected on the newborn screen are typically so severe that even without newborn screening, an affected child would eventually require significant medical treatment resulting in the diagnosis in the medical record. The problem with delaying diagnosis until symptoms appear is that it is often too late at that point for medical intervention to make a real difference. Babies with these conditions may appear healthy and normal at birth, while irreversible damage is silently occurring in the brain and other organs.
The second assumption that you make is that identification of these diseases puts children at risk for insurance or employment discrimination. While genetic discrimination is a theoretical risk, I believe that your report grossly exaggerates this possibility. Again, a diagnosis based on newborn screening is no more likely to result in discrimination than a diagnosis based on symptoms. It is true that newborn screening can sometimes identify individuals who only carry a genetic difference associated with a disease, but are not affected with a disease. Genetic carrier status has no effect on an individual’s long-term health and does not require treatment. Therefore, carrier status does not cost an individual’s insurance company anything. Nor does carrier status create any disability that would affect one’s performance at work. Therefore the risk of insurance discrimination is very low, and in fact, actual cases of discrimination based on genetic testing results are very few and far between.
Nevertheless, there is a federal law called the Genetic Information Non-Discrimination Act (GINA) which prohibits health insurance and employment discrimination based on genetic information, and which your report entirely neglected to mention. While there are limits to the protections provided by the law (see http://www.genome.gov/24519851 and http://www.dnapolicy.org/), GINA was specifically written to allow families to feel less afraid of having medically necessary genetic testing. In addition, another federal law called the Health Insurance Portability and Accountability Act (HIPAA) provides strict controls on the types of medical information that can be shared with non-health care providers, including information related to newborn screening and residual samples. If a parent truly feels that their child’s medical privacy rights have been violated by newborn screening protocols, there are outlets for reporting that (see http://www.hipaa.ihs.gov/index.cfm?module=faq).
Finally, the third concern I have with your report is the suggestion that the government will surreptitiously begin adding tests to the newborn screening for common conditions like mental illness or diabetes. Again, in my opinion, your report greatly exaggerates this risk. Many of us are frightened of science-fiction scenarios in which babies are genetically labeled and sorted. However, the goal of newborn screening is early treatment, not eradication of genetic traits or labeling of adult onset disease. Your readers may be relieved to know that there are very stringent criteria for inclusion of a condition on newborn screening panels. Committees of medical and ethical experts have carefully considered how common a disease is, how severe it is, and whether early diagnosis and treatment will make any difference before including a condition on the test panel. Your readers should know that much of the movement to implement newborn screening did not come from government bureaucrats, but from families who have witnessed first hand the difference that newborn screening can make.
Certainly, as a society we should be debating the uses of genetic technology, including what conditions are included on testing panels, who gets to decide, who has access to our genetic information and how is it used. I also concede that we health care providers can be doing a better job to make sure parents fully understand newborn screening, ahead of time, and have the opportunity to opt out of both testing and storage of DNA. But make no mistake, newborn screening has saved lives, reduced suffering, and contributed to genetic and public health research. I believe that most thoughtful parents, armed with balanced and complete information, would agree that the benefits of newborn screening far outweigh the risks, to both their children and the community at large.
Your report would have been less alarming and more informative for your audience if it had included more facts and less speculation. For future stories on genetics, I encourage you to utilize the professionals in the American College of Medical Genetics (see http://www.acmg.net) and the National Society of Genetic Counselors (see http://www.nsgc.org) to both deepen and broaden your discussion of the issues.
Suzanna Schott, ScM-LCGC
Licensed Certified Genetic Counselor
Albuquerque, New Mexico