Health Journalism 2008: Pros and cons of genetic risk profiling

By Jennifer Holder, Ed.D.
Freelance writer

Panelists that included genetics experts and a mother and daughter who have explored their genetics urged journalists to deliver comprehensive and balanced information to the general population about genetic risk profiling.  Susan Davis, a breast cancer survivor, and her daughter Jennifer, who has tested positive for the breast cancer genetic marker BRCA, said the public has a responsibility as well to seek out and share information with each other.

 "It is important that we deal with this information in a way that is realistic, accurate, precise and with an understanding as to what we have in mind that we will get from this information," said Kevin T. FitzGerald, S.J., Ph.D., the Lauler Chair in Catholic Health Care Ethics at Georgetown University Medical Center.  "The challenge," he continued, "is how to communicate information without the hype that may lead to harm."

The U.S. Human Genome Project, which began formally in 1990, was a 13-year effort coordinated by the U.S. Department of Energy and the National Institutes of Health. The project's goals were to identify all the approximately 20,000-25,000 genes in human DNA; determine the sequences of the 3 billion chemical base pairs that make up human DNA; store this information in databases; improve tools for data analysis; transfer related technologies to the private sector; and address the ethical, legal and social issues (ELSI) that may arise from the project.

William G. Feero, M.D., Ph.D., of the National Human Genome Research Institute, observed that, "We live in a remarkable time. The fruit of the Human Genome Project has come to fruition. Completed in 2003, it has opened doors to other fairly large projects, such as HapMap and ENCODE project." Low cost genotyping and advances in technology led to increases in studies, leading to increases in identification of genetic markers. This increased knowledge of genetic markers may lead to improved diagnosis, treatment and ultimately prevention of diseases.

This wide availability of information is cause for concern at a societal level, noted Feero. Some of the concerns of the consumer are: Who else is seeing the testing information; will the insurance companies and/or employers discriminate; and what will testing companies do with the individual's information long term?

Fitzgerald also believes that there is a great deal of promise and hope of benefits that can come from genetic testing. It is, he stated, "another way to give information to medical professionals about you." He asserted, however, that, "privacy and confidentiality will be very difficult to maintain as genetic testing becomes more common."

Despite any concerns arising from the use of genetic information, its availability could create an empowered public, and, "having an empowered public does much better for us as we move forward with this information." FitzGerald added that, "we are all genetically defective in one way or another…" and having genetic information, "is an opportunity for us to see each other equally and to become engaged," he concluded.

Kelly Vogel, vice president for federal affairs at America's Health Insurance Plans, explained that she is working on The Genetic Information Nondiscrimination Act of 2007 (GINA). The intent of the legislation, she said, "was to give folks comfort that they are not going to be discriminated against by the insurance companies and employers; to make sure that people continue to take advantage of the benefits that this genetic knowledge will make available; GINA wants to have information for benefit of society, such as developing treatment, and prevention processes."

Susan Davis shared her family story – both her maternal grandmother and mother died from breast cancer at young ages, and Susan was diagnosed at age 49. It was only after her surgery that she became aware of genetic testing. She remarked, "If I had known about genetic testing when it came out, I would have tested and I would have removed my breasts before."

Susan is an advocate for the availability of information to the general population. "I hope at least that they are equipped with the knowledge and the steps they can take if they want to." She also advocates that physicians communicate with patients the tests that are available and provide genetic counseling to their patients to deal with the information.  She expressed concern, however, that fear of what insurance companies may do with information may prevent some people from testing. 

Nine months after Susan's diagnosis, her daughter, Jennifer Davis, at age 19 tested for the breast cancer genetic marker, BRCA, as did some other members of their family. Jennifer tested positive, which she said only confirmed what she already knew. Knowing this, she started mammogram screening at age 25, versus age 40. Her message is that, "people should look at their family medical history and do something with the information, other than just watch family suffer."

In response to a journalist's question as to the health disparities among races, FitzGerald replied, "We need to be more aware of how this information can either help us to address issues like health care disparities and to help undercut the health care disparities and not exacerbate it."

Feero added that the NIH is very interested in this area and will bring in more people of diverse backgrounds to understand genetic information.

The panelists were unanimous in their message that genetic information can be useful to the society. They encouraged journalists to deliver the information both ways – from the scientific community to the general population and in the reverse order as well.