Media Kit

The 12th meeting of the
Secretary's Advisory Committee on Genetic Testing
February 14, 2002

It is my pleasure to speak on behalf of NSGC, which represents nearly 2,000 genetic counselors in an array of medical specialties and is the leading voice, authority, and advocate for the genetic counseling profession.

We commend the SACGT on its accomplishments to date and appreciate the opportunity to comment on the committee's continuing activities. At this time, the NSGC would like to raise three specific points regarding quality assurance; support of clinical research; and the use of diverse populations in clinical research studies.

1. Quality assurance measures for genetic tests should include genetic counseling- Patients and families have the right to expect that the correct genetic tests have been ordered, that specimens have been sent to the appropriate laboratories, that the tests have been performed correctly, and that test results have been interpreted accurately. While the majority of discussion yesterday focused on the importance of quality assurance measures for the laboratory analysis, it is equally important to ensure the high quality of the pre and post analytic phases of testing.

   As a quality assurance measure, this committee should send a strong message advocating the importance of genetic counseling during the testing process. Genetic counseling is critical for assessing patients' risks, determining whether genetic testing is indicated, describing the limitations and implications of testing, selecting the appropriate laboratory, and interpreting test results. In essence, genetic counseling is a key part of providing appropriate oversight genetic testing.

   The subtle nuances of reduced penetrance and variable expressivity complicate the clinical implications of positive or negative test results and require providers who have a firm understanding of basic genetics. Genetics specialists are therefore the logical providers to be responsible for arranging complex genetic tests and discussing the clinical implications of the test results for patients and their relatives. Concerns have been raised about the shortage of genetics professionals, and this issue must also be addressed, including strategies for educating primary care providers regarding appropriate genetics referrals and available resources.

2. Clinical genetics research needs to be encouraged and supported - Patients found to carry specific germline mutations invariably ask their clinicians, "What does this result mean?" The only way to truly answer questions about genotype-phenotype correlations, as well as questions about appropriate management, is through large-scale, cooperative research studies. The NSGC strongly believes that such studies will provide valuable information for patients and families. Thus, genetic research projects should continue being encouraged and supported, including studies on the ethical, legal, and social implications of testing.

   As a separate issue, clinical genetics researchers need clear guidance on how to protect each family member's right to privacy while being allowed to gather the medical information needed for family studies research. Pedigree and linkage analysis studies, cornerstones of clinical genetics research, are becoming increasingly difficult to undertake because of concerns about individual family members' rights to privacy. Yet these studies are critically important in our quest to characterize rare genetic syndromes and to provide optimal care to families. Members of NSGC with expertise in clinical research are available as a resource to help with the discussion and resolution of this issue. Having sufficient privacy protections in place is also important.

3. Race and ethnicity in genetic research and testing- As we have heard in today's discussion, the distinction of race and ethnicity in the field of genomics is debatable. However, in clinical genetics studies, the use of diverse populations is critical. Ethnicity may influence the rates of detection of specific gene mutations and the severity of the phenotype. (such as in the case of cystic fibrosis). The use of diverse populations is also important in research projects studying the attitudes, knowledge, and behaviors around the use of genetic test information. The successful recruitment of non-White populations into clinical genetic research studies will have two potential benefits: (1) study conclusions will more accurately reflect the rich ethnic diversity within the United States and (2) inclusion in such studies may pave the way for an improved dialogue between the genetics community and various ethnic groups. Some ethnic groups' past experiences with genetic research have made them suspicious and reluctant to participate in genetic studies; it is important for researchers to be sensitive to these past experiences and recognize potential barriers to participation.

   Successful recruitment of diverse populations will depend on having researchers who are either members of minority groups themselves or are familiar with the views of ethnically diverse groups including alternative views on health, illness, the role of medical providers, and even the decision-making process. Thus, the SACGT should include issues of diversity training in educational efforts targeted to clinicians and researchers.

In closing, the National Society of Genetic Counselors enthusiastically supports the efforts of the SACGT. I would be happy to continue the discussion about any of these points if there are questions. Thank you for your time.