Newborn screening practices: Issue of genetic ownership examined

"I was born in Nappanee, Ind., and my blood sample is currently in the Indiana State Department of Health possibly being used for research because state policy says it will be held there until I turn 23," Zent said.

The Indiana State University senior biology major is one of the thousands of babies born each day who leave the hospital having been tested for a variety of inheritable and fatal health conditions through a practice known as newborn screening.

While newborn screening is one of the national public health services that has transformed preventive healthcare, there are certain ethical and legal concerns about what happens to the babies' genetic information beyond the tests. As a part of the Summer Undergraduate Research Experience program, Zent explored each state's policy and procedure as it pertains to newborn screening practices.

"I found that up until 2014 when President Obama passed the Newborn Screening Saves Lives Reauthorization Act, there was no federal mandate that required hospitals and research entities get parental consent to use the child's sample in research," Zent said.

In recent years, there have been newborn screening lawsuits filed against many states, including one against the Indiana State Department of Health, for the improper storage and use of blood samples obtained from newborn screening. "I think this really became a national conversation after the book 'The Immortal Life of Henrietta Lacks' by Rebecca Skloot came out," said Nathan Myers, a faculty sponsor for the SURE program.

In 1951, Henrietta Lacks, a poor African-American woman, was diagnosed with cervical cancer at Johns Hopkins Hospital. Her cells were taken without her knowledge and used to advance scientific research. Now known as HeLa cells, they helped to develop medical innovations such as the polio vaccine and countless others.

"There is a certain amount of controversy surrounding this issue of who actually owns your genetic information and to what extent does the individual actually have ownership," Myers said. "Samantha looked at her research from high-risk to low-risk states in terms of a parent's perspective. Is there a lot of information provided on newborn screening and a low level of storage time for the samples? The states that store samples forever and do not provide any information about newborn screening or research are the ones that might have a higher probability of using that genetic information in a negative way." Zent concluded there is a general lack of knowledge about newborn screening and research for parents and healthcare providers. In her research, which is ongoing, she suggests that genetic counselors may be able to bridge the gap between researchers, physicians and families.

"The personal side of me wishes genetic counselors could meet with all of those women to help them understand what their babies are even being tested for, because I don't think there is very much education," said Megan Tucker, director of the master's of genetic counseling program. "At the same time, when there are less than 50 of us in the entire state, I don't think there is the physical man power to truly touch the thousands of women that have babies every year."

Genetic counseling began as a profession in the 1970s to interpret and explain genetic information and disorders in order to educate individuals, especially parents and families.

"It is very much a growing field that leads into all kinds of different specialties, not just prenatal but into adult disorders and neurology and cardiology," Tucker said. "So it's growing in a lot of directions, which that in itself makes it hard for us to keep up with all of those things with the few of us that exist."

Indiana State's master's of genetic counseling is the 33rd accredited program in the U.S. and Canada and aims to help fill the profession's needs while providing students with an interdisciplinary education. "In theory, a graduate student from our program, or any genetic counselling program, should be able to walk out and know all of the areas that genetic counselors work in, such as prenatal, oncology clinics, pediatrics and others," Tucker said.

The two-year program, which accepted its first class in August, offers a unique opportunity for students to gain experiential learning in the new Genetic Counseling Clinic in Wabash Valley.

"Indiana State and Union Hospital have partnered to open the first genetic counseling clinic in which we are now serving patients with diagnoses of cancer or psychiatric disorders, such as schizophrenia or bipolar disorder," Tucker said. "Through the Center for Genomic Advocacy, the genetic counseling program and the clinic, we begin to truly reach out to individuals outside of the university to the Terre Haute community."