The development in genomic medicine seems to grow on a daily basis as a result of breakthroughs and discoveries in just about every scientific journal I read. Researchers are exploring new interventions to manipulate fetal cells found in the mother's circulation to assist in making noninvasive prenatal diagnosis of that fetus.1 Complex diseases, such as autism spectrum disorders, have been found to have many distinct molecular pathways and a variety of mutational mechanisms that could be better studied with a human neuronal culture system.2 Studies have begun to investigate the role of genetics to identify which specific genes are responsible for persistent patency of the ductus arteriosus in an attempt to determine "currently unknown targets for future therapeutic manipulation."3^(p98) Lee Silver, through his company called GenePeeks, offers technology that integrates the DNA of parents to calculate risks of genetic variants of severe recessive disorders and monogenetic diseases. Dr Silver foresees the expertise to be capable of decreasing or eliminating genetic risks by incorporating whole-genome screening as a component of preimplantation genetic diagnoses.4 Because of the increased uses of genetic testing, interested parties working in the genetic arena partnered with lawmakers to have the Genetic Nondiscrimination Act (GINA) of 2008 passed as the first federal antidiscrimination statute.5

The 2 goals of GINA are to prevent discrimination and to alleviate the fears of the public regarding the potential for discrimination in employment and health insurance.5,6 Subjects are needed to participate in translational studies involving genomic information as well those that investigate the genetic basis of disease/disorders. For example, those enrolled in the randomized trial, the MedSeq Project, have their whole-genome sequencing stored in their electronic medical record and their outcomes are tracked.7 Twenty-five percent of subjects who declined to participate voiced concerns regarding fear of discrimination of health insurance.6 Advances in science need to be made to better understand disease as well as test novel therapies. Information learned does have the potential to abuse the genetic information learned through experimentation. Despite no history of discrimination at the time GINA was passed, there had been precedent set in related situations.

In the early 1900s, conditions such as mental disorders, epilepsy, hearing loss, and blindness were considered genetic "defects."5 To prevent these unwanted traits from continuing, sterilization laws were enacted in the majority of the United States by 1981! Genetic discrimination against ethnic groups was seen in the 1970s when states mandated genetic screening of all African Americans to identify carriers of sickle cell anemia.5 Today, many of these laws based on the early understanding of genetics have been rescinded and others have been amended to include due process and equal protections.5 In 1972, the National Sickle Cell Anemia Control Act was passed to assuage the fear of discrimination. The Act mandates that federal funding be withheld from those states in which sickle cell testing is not voluntary,5 thus the feeling in the genetic community that protections were indeed necessary.

Some of you may be involved in research studies that involve genetic materials, and many of us carry our medical record on a thumb drive to give to healthcare providers. I would bet that we have about the same knowledge of GINA as the general public. A survey of adults in 4 states 2 years after GINA became law found that less than 20% of adults were aware of the Act.8 An online survey in 2014 using Mechanical Turk found that 79% of the 1479 subjects did not have knowledge of GINA, and of those who said they knew the Act, 56% did not know that the Act afforded protections against genetic discrimination in health insurance and 69% were not aware of the protections for employment.9 While there are federal and state laws that address discrimination related to genetic information in reference to health insurance and employment, many are incomplete with respect to scope and depth of protections and all vary widely. GINA is an attempt to fill the gaps by being a uniform national standard to protect the public and dispel fears regarding possible discrimination.5 Questions regarding the use of information from genetic testing and who has access to it are not unfrequently heard today. Informing our patients/families about the existence of GINA or how to find it for themselves to read (see the reference list) may be helpful in some situations. It is hoped that GINA will give people confidence to participate without fears in genetic testing and research.

-M. Terese Verklan, PhD, CCNS, RNC, FAAN

Professor and Neonatal Clinical Nurse Specialist

University of Texas Medical Branch

School of Nursing and Graduate School of Biomedical Sciences

Galveston, Texas

References