National Institutes of Health Workshop Statement on Reproductive Genetic Testing: Impact on Women

National Institutes of Health Workshop Statement on
Reproductive Genetic Testing: Impact on Women

November 21-23, 1991

Sponsored by:

National Institute of Child Health and Human Development
National Institute of Nursing Research
Office of Research on Women's Health
National Center for Human Genome Research

(published in Fetal Diagn Ther. 1993;8(suppl 1):6-9)

Reproductive genetic testing, counseling and other genetic services can be valuable components in the reproductive health care of women and their families; they can also have negative effects on individuals, on families and on communities. These services have the potential to increase knowledge about possible pregnancy outcomes that may occur if a woman decides to reproduce; to provide reassurance during pregnancy; to enhance the developing relationship between the woman, her expected child and others; to allow a woman an opportunity to choose whether or not to continue a pregnancy in which the expected child has a birth defect or a genetic disorder, and if continuing, to facilitate prenatal or early infant therapy for her expected child, when possible; and to prepare for bearing and rearing a child with a disability. Conversely, these services have the potential to increase anxiety; to place excessive responsibility, blame and guilt on a woman for her pregnancy outcome; to interfere with maternal infant bonding; and to disrupt relationships between a woman, family members and her community.

The challenge is to provide each woman with an opportunity to have access to desired genetic services in a way that will improve her control over the circumstances of her reproductive life, her pregnancies, childbearing and parenting, within a framework that is sensitive to her needs and values and minimizes the potential for coercion. The value placed on these services by women and their families depends heavily on a mixture of psychological and ethnocultural influences; religious and moral values; and legal and economic constraints that are unique to each woman. In addition, it may be influenced by a woman's perceptions about and past experience with people with disabilities. As a consequence, women in different circumstances may weigh the merits of reproductive genetic services quite differently.

These complex individual differences among women challenge efforts to evaluate the 'safety and efficacy' of reproductive genetic services. To reflect the function of genetic services in reproductive health care, evaluation criteria must be client-centered. That is, beyond assessing the biological safety and technical reliability of reproductive genetic services, they should be assessed to determine if they fulfill the roles that their clients define for them. Women may be interested in knowing to what extent reproductive genetic services can reassure, facilitate planning and improve informed decision making, as well as how they can limit potentially off setting costs such as the risk for coercion, increased anxiety and compromise of their own values. Further, it may be important to determine to what extent reproductive genetic services can be modulated to respect the needs and interests of individual women and their families. Research designed to evaluate reproductive genetic services in these terms is urgently needed.

This understanding of reproductive genetic services has several important implications that should be considered in the development of a future research agenda in this area.

1. Reproductive genetic services should not be used to pursue 'eugenic' goals, but should be aimed at increasing individuals' control over their own reproductive lives. Therefore, new strategies need to be developed to evaluate the success of such services.

Reproductive genetic services must ultimately serve personal, not public interests in improving the overall reproductive lives of women. Whatever societal gains might be realized through the eugenic use of reproductive genetic services should be heavily outweighed by the personal needs of women and their families. The ideals of self-determination in family matters and respect for individual differences that lie behind the client-centered view of reproductive genetic services are jeopardized whenever the primary goal of these services becomes the prevention of the birth of individuals with a disorder or a disability. Such a goal has the potential to constrain the choices available to women and to further stigmatize those individuals affected by a particular disorder or disability. To the extent that voluntary reproductive genetic services are evaluated even indirectly in eugenic terms, societal pressures have the potential to threaten the important interests and desires of individual women and their families.

2. Reproductive genetic services should be meticulously voluntary.

Since the primary goal of reproductive genetic services should be to enhance personal reproductive decisions, such testing should not be swept in with other 'routine' or 'universal' reproductive interventions, unless in formed consent or refusal can be assured. Assisting women to give a fully informed con sent or refusal to genetics education, testing and counseling services is at the heart of these services. Whether genetic services are provided by genetics professionals or other health care professionals, it is vital that these services are provided in a nonjudgmental and noncoercive manner, and that they be carried out only after adequate education about their benefits and risks including those beyond biology. The success of genetic services depends on their ability to effectively empower people to make knowledgeable and informed decisions. As a result, methods to evaluate the success or failure of these services should be devised with this goal in mind.

3. Reproductive genetic services should be value-sensitive.

Providers of reproductive genetic services should be particularly sensitive to individual differences and similarities including ethnocultural differences and similarities and various constellations of beliefs, value commitments and relationships, and adapt their services accordingly. In particular, providers of reproductive genetic services need to be aware of their own value system which has developed within the context and culture of the biomedical sciences, and to be aware of the language, undertones, assumptions and values hidden within their own professions. Training of professionals who will provide these services should include special emphasis on influences of psychological, sociodemographic, religious and moral values, and ethnocultural diversity in women's needs and interests regarding reproductive genetic testing services. The true impact of gender, race, ethnicity, class and educational discipline of providers on how services are provided must be evaluated.

4. Standards of care for reproductive genetic services should emphasize genetics information, education and counseling rather than testing procedure alone.

To the extent that reproductive genetic services are designed to facilitate personal reproductive planning, providers of reproductive genetic testing and counseling should tailor their services to meet the needs and interests of pregnant women from the beginning. Extreme efforts should be made to assure that the content of information shared regarding the disorders for which testing is carried out is comprehensive, accurate and provided in an unbiased manner, so that a true picture of what life with such a disability may be like is presented.

Evaluation measures to determine when women know enough to have these interests met could serve to establish professional standards of care that do not drive providers to encourage testing when it is not desired. Conversely, sometimes providers do not offer reproductive genetic testing unless a woman knows enough to ask for these services. Further evaluation must be done to determine the balance which must be reached in educating women so that they have enough information about these services without feeling pressure to utilize them when undesired.

5. Social, legal and economic constraints on reproductive genetic services should be removed.

Government and institutional policies have continued to influence legal and fiscal rules that limit the reproductive genetic testing choices that women have available to them. Research is needed to clarify such constraints and how they affect the choices and availability of services. Research is also needed to develop and test alternative models for delivery of these services that would improve access and reduce barriers to genetic services for those women who desire them.

6. Increasing attention focused on the development and utilization of reproductive genetic testing services may further stigmatize individuals affected by a particular disorder or disability.

The values that some place on health and disabilities, what people may be told about disabilities and even the use of certain language to describe the benefits of reproductive genetic testing have the potential to devalue the worth of individuals with disabilities in society. Increased sensitivity to these issues and improved communication between the biomedical and the disability communities is urgently needed in order for the true impact of these developing technologies to become known. Individuals with disabilities, who have a variety of information, experiences and views to share, must be involved in the development and implementation of further research to be carried out in this area.

In summary, there are a number of ways that reproductive genetic services may continue to be, in many cases, less than ideal. This system of care will fail not only if providers are not informed about and sensitive to the importance of individual differences among women, but also if women themselves do not understand the complexity of making decisions about whether to utilize these services within the context of their own needs. The future of reproductive genetic testing within the context of reproductive health care for women and their families depends on research activities that are aimed at a better understanding of how best to address these challenges.