Editor’s note: A special article from the National Human Genome Research Institute.

Many nurses are familiar with the term newborn screening (NBS), but you many not fully understand the implications of testing now — and in the future.

Jack, a 7 pound, 8 ounce baby boy, announced his arrival with a lusty cry at 7:15 AM in 2011. Twenty-four hours later, just before going home, a nurse pricked his heel, dropping some of his blood onto a card, which later that day was sent to a regional genetics lab to be screened for genetic disease.

Like the millions of other babies born in 2011, Jack’s blood will be placed into a Tandem Mass Spectrometer (MS/MS) and analyzed for a limited number of metabolic analytes (the number is determined at the state level – many, but not all, states test for 29 disorders). If his blood contains a high level of any of the target analytes, confirmatory testing will be conducted and his pediatrician notified.

In 2011, the link between an elevated analyte, a gene mutation and disease expression may, or may not, be straightforward. If Jack has Phenylketone Urea (PKU), his phenylalanine level will be high on MS/MS and additional testing will be done to confirm the diagnosis. If he has PKU, he will be started immediately on an altered diet to prevent mental retardation. Early PKU screening has truly been a lifesaver for thousands of children, dramatically improving the quality and length of their lives.

If Jack has Cystic Fibrosis (CF), however, MS/MS may reveal high levels of Immune Reactive Trypsinogen (IRT) and genetic testing will confirm the diagnosis. In the case of CF, however, the severity of Jack’s disease will not be known until a sweat chloride test can be done when he is about 3 months old. Until then, his parents and pediatrician will treat him as if he had the most severe form of the disease. There is also no “miracle” cure for CF. His quality of life will be better, but he may still be hospitalized every year and the disease may shorten his life. In the case of CF, and many other genetic diseases, simply knowing the genetic “code” isn’t enough. (See www.cff.org/AboutCF/Testing/NewbornScreening for more information.)

If Jack is born in 2021, he may not have his blood drawn at all. He may simply have the inside of his cheek swabbed. By that time, the cost for sequencing his entire genome may be the same as MS/MS screening, and his complete genome would be uploaded to the national NBS database and copied to the National Electronic Healthcare Record database. At his 2-week check, his pediatrician or nurse practitioner would review his NBS results with his parents. His provider may also ask the computer to perform a quick scan through Jack’s genes to see if he has inherited any other genes or gene combinations that may increase his overall risk for other diseases like Type II Diabetes, or heart disease.

The provider may not discuss everything at this office visit, but as Jack grows, and more information becomes available about how genes contribute to or protect from disease, many more conversations about diet, exercise, vitamin supplementation, sun exposure, drug efficacy, etc. will take place. The “blueprint” for Jack’s future health is in the computer and is readily available for review.

In the 2021 case, Jack’s full genetic code — his lifetime potential risk for diseases like prostate cancer, type II Diabetes, glaucoma and thousands more, many of which may never occur, or which may emerge later in adulthood will be available for review.

Some questions to consider

In 2011, over 4 million American infants will be screened for genetic and other congenital disorders. Newborn screening is the poster child for “population screening”, which is designed to identify and treat individuals to improve health and prevent disease. Several ethical issues arise when considering population screening. Regardless of the purpose (Pap smears, mammography, NBS), population screening is expensive, consuming healthcare resources that could be used in other ways to save lives. Evidence that NBS changes outcomes and improves health is strong only for a few disorders, so adding new tests, or converting to genome sequencing will be hotly debated.

Consent is an issue because newborns clearly cannot consent for genetic testing. Interestingly, however, universal NBS is automatic in all but 2 states without parental consent, which is almost unprecedented in healthcare. If children need medical treatment, or are enrolled in a clinical trial, parental informed consent is mandatory and consent is mandatory for adults requesting genetic testing. Universal screening without consent was instituted the 1960s because the time-sensitive nature and perceived benefit of NBS justified omitting parental informed consent. As NBS expands, however, a broader definition of “benefit” may apply and parental informed consent is being reconsidered.

Nurses should be knowledgeable enough about these emerging issues to be able to advocate for the rights of all clients. That includes understanding the background of genetics (See Understanding the issues.)

Understanding the issues

What do you think? Is universal newborn genetic screening a good idea? Can individual screening improve population health? Is whole genome profiling better than limited testing? Should informed consent be required for NBS? Do you think genetic information will change the way parents relate to their newborn or to one another (because families share genes)? Should parents have access to their children’s whole genome, or only to the information about disorders relevant in childhood? Will knowledge of potential future health risks paralyze, or empower parents? Who pays for testing, follow-up or long-term treatment? Will income determine access to information? What about insurance or employment discrimination? How will genomic information be protected from theft or loss? How much computer storage will be needed if every newborn is offered whole genome screening? Who owns the computers and servers the genomic data would reside on? Who will ensure that all electronic systems “talk” to one another? If information is shared between computers and across families in electronic health records, how might genetic information on one person impact the rest of the family (i.e. one person is found to have a breast cancer gene mutation)? Who will share genetic details with patient — and when?

Get involved

Nurses are the largest group of health professionals in the United States. Over the past century as scientific understanding and technological advances have expanded, ethical challenges have increased in both scope and complexity, By voicing their opinions, nurses have the potential to influence policy and practice about emerging issues at local, regional, national and international levels.

Many nurses have already become involved and are key leaders shaping the future of ethics, genomics, and informatics. Some are making a difference in patient care by becoming certified as ethicists, informaticians or as Advanced Practice Nurses in Genetics (APNGs). Others have received advanced degrees in informatics or genetics (see www.isong.org for information on genetics graduate programs) and are actively engaged in conducting research. Still others have led multidisciplinary teams, advisory committees and task forces and are helping to shape healthcare policy at the national level. A growing number of nurses are involved in expanding education in these important areas, helping to shape the future of nursing through advocacy, competency development and curriculum reform.

How will you become involved?

Diane C. Seibert, PhD, CRNP, FAANP, is an Associate Professor and Program Director of the Family Nurse Practitioner Program at Uniformed Services University of the Health Sciences in Bethesda, MD.

The opinions expressed herein are those of the author(s), and are not necessarily representative of those of the Uniformed Services University of the Health Sciences (USUHS), the Department of Defense (DOD); or, the United States Army, Navy, or Air Force.

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