National Institutes of Health U.S. Department of Health and Human Services
Non-Medical Applications of Genomics
National Human Genome Research Institute (NHGRI)
Hyatt Regency Bethesda
July 11, 2002
The National Human Genome Research Institute (NHGRI) has begun a year long planning effort to help guide the institute into the new era of genome research that will follow the completion of the Human Genome Project (HGP) in the spring of 2003. As part of this process, NHGRI has sponsored an ongoing series of workshops focused on specific health, scientific and social topics. On July 11, 2002, NHGRI held a workshop to discuss the non-medical applications of genomics. This workshop was designed to identify the potential implications of non-medical applications of genomics, explore the optimal research agenda to evaluate them and identify the policy implications of these applications. Attendees included individuals with expertise and/or interest in the workshop topics.
Prior to the workshop, a variety of relevant topics were identified, and individuals with expertise in these topics were asked to provide answers to the following questions: (1) What is the state of the art now for this topic? (2) What is the state of the law now for this topic? (3) What is likely to change over the next 10 years? (4) Who else is working on this topic? and (5) Why would it be good or bad for NHGRI to pursue? The topics included Civil Litigation, Criminal Forensics, Criminal Law, Employment, Environment, Family Law, Identity, Insurance, Civil Litigation, Government Uses, Education and Sports.
Alan Guttmacher, Deputy Director NHGRI, opened the workshop by asking the attendees to think broadly, boldly and think of new things and find new ways for addressing old questions as they worked to identify associated non-medical application challenges and define NHGRI's role.
To set the tone for the meeting, Karen Rothenberg encouraged workshop members to voice their personal areas of concern and worry as it related to non-medical applications by asking: "Why are we afraid?" As the discussion continued, several prominent themes emerged. At the heart of this fear were research-related questions and motivations, commercial and legal implications, deep personal emotions that impact our core values including family, and issues of personal safety or autonomy. The group discussed what made one use for genetic information more appropriate or comfortable than another and how this might vary in different communities or ethnic cultures. It was suggested that non-medical and medical uses are interrelated, (i.e., prenatal testing can be described as a medical or non-medical use depending on the intent or purpose of use). In most medical applications of genetics, the person tested is the beneficiary, while in non-medical applications, these individuals may not be the beneficiaries. Based on the discussions, it was suggested that NHGRI should:
Assess how social and personal values affect the choice to seek genetic tests.
Work to ensure the proper oversight as genomic research advances.
Educate legal experts, researchers, and the public to improve the perception of genomic research and to avoid generalizations of genomic research.
Clarify the benefits and risks (personal, social or legal) of genetic testing.
Examine forces that drive the economics of genetic testing including social values, use of unproven scientific theories and increased consumer demand.
Create new models to assess the ethical considerations in the non-medical uses versus the medical uses of genetic information.
Four breakout sessions were held to raise new ideas and to promote focused interaction. These sessions are summarized below:
Predictions of Future Health and Life Expectancy (Mildred Cho, Discussion Leader)
In the future, although the number and accuracy of genetic tests will increase, they may not be more predictive about the level of risk of developing a disease or condition.
There is a need to specify what happens when genetic information is used in a particular setting and who bears the costs.
There is a need to assess implications of genetic testing and how people respond to it, and to then define the best way to help the general public understand the implications of genetic testing.
Conducting studies of public awareness is crucial to assess the public's understanding of genetic testing in non-medical situations and to address associated issues of trust and informed consent.
NHGRI should identify who, besides doctors and genetic counselors, might be appropriate to play a role in communicating genetic information and working to explain the positive aspects of genetics.
Identification (Andre Davis, Discussion Leader)
We need to accept that the establishment of DNA databases for forensic purposes is a fact of life. There is real concern over the loss of civil liberties from DNA collection. Once used to test only murderers and rapists, DNA samples are now collected for many misdemeanors. We need to recognize and address associated personal issues that may result from unintended use of these data.
NHGRI should work with other agencies (Department of Justice, etc.) to examine forensic databases and study issues related to possible uses of DNA. NHGRI should assist in analytical data evaluation and develop a policy on the collection of the data.
NHGRI should conduct studies on behavioral genetics.
There should be ongoing education for judges who decide the admissibility of genetic information for predisposition to diseases or for identification purposes.
Behavioral genetics may be utilized in a number of different scenarios including education, health and employment.
NHGRI needs to understand why the public inappropriately attributes "extra power" to genes.
Public education is the best way for NHGRI to promote discussion. NHGRI needs to involve health care professionals and the mass media in conveying accurate information about behavioral genetics to the public.
Genetic testing for behavioral problems can have positive uses, including providing access to services, i.e., access to educational services for those with attention deficit disorder. This can have both positive and negative implications, including an impact on community attitudes.
There is an intersection of environment, heredity and genes. NHGRI needs to assess the impact on self and individuals from stigma related to genetic information.
DNA and Society (Lori Andrews, Discussion Leader)
NHGRI needs to focus on the harm induced, and who bears the burden of that harm. Some NHGRI projects should examine decision-making by individuals and institutions, including how they decide.
NHGRI needs to look at appropriateness of tests.
Genetic researchers see ELSI components as bottlenecks. Using genetic information as a way to educate scientists can help them implement their work.
NHGRI should examine the role of commercial incentives for genetic testing (such as selling lots of tests for carpal tunnel syndrome) as lost opportunities for scientific advancement because of ethical concerns. NHGRI needs to look at direct marketing to consumers.
NHGRI must evaluate what makes people think genetics has more power than it does and why it seems to have that power. NHGRI needs to determine what our society values and then expand research efforts to explore these values.
Francis Collins, Director of NHGRI, concluded the workshop by challenging the attendees to distill specific goals that would enhance the NHGRI mission. The group concluded that NHGRI should:
Collaborate with national and international groups.
Partner with consumer groups to increase information exchange between policy and research groups.
Ensure that any data needs identified can foster additional government involvement and research.
Increase the number of RFAs to study non-medical applications - in addition to funding appropriate research proposals that come to the institute.
Perform more empirical research on the effect of state legislation on genetic discrimination and the fear of genetic discrimination.
Support research regarding public awareness of the impact genetic testing can have on the ability to obtain or maintain employment or insurance.
Increase public education.
Assess the impact of non-medical applications on the disability community.
Assess public attitudes about non-medical applications of genetic testing, and how these attitudes vary within communities or ethnic groups.
Perform empirical studies of what works and what doesn't in public education.
Promote research to determine how commercial forces drive applications of genomic information.
Develop best practices.
Look at the ethics of genetic manipulation and its impact on minority communities.
Support research and public policy that examines the capacity of the courts to deal with the new genetics.
Determine the important sets of public values that apply to non-medical applications of genomics and understand their relationship to specific contextual applications (e.g., school services, criminal responsibility).
Determine how to take the ideas from this workshop and empower ELSI scientists and researchers to take them to next steps. NHGRI needs to better understand the role of ethics and who actually makes decisions on what is allowed.
Summation: Regarding the issues of non-medical applications of genomics, NHGRI should take a leadership role in:
Conducting studies to assess the public's understanding of genetic testing in non-medical situations.
Working with other agencies to examine forensic databases and study issues related to possible uses of DNA.
Conducting research and developing public education programs on behavioral genetics.
Promoting research to determine how commercial forces drive applications of genomic information.
Assessing the impact of non-medical applications on the disability community.
Increasing the number of RFAs to study non-medical applications.