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My name is Vivian Weinblatt, president of the National Society of Genetic Counselors. I am pleased to speak on behalf of the NSGC, the leading voice, authority and advocate of the genetic counseling profession. The NSGC is comprised of nearly 2000 genetics health care providers, the vast majority of whom are masters-level trained professionals providing direct clinical services to patients. We commend the SACGT on its accomplishments to date, including its recommendations for oversight of genetic testing, development of a test classification system and creation of an information template to educate health professionals regarding the unique nature of genetic tests. The NSGC has submitted written comment on the test classification system and information templates, which, I believe, is available in your materials.
I will not reiterate the points made in the written documents, but am available to respond should the committee desire clarification or additional information. I will, instead, address three aspects of genetic testing that require attention as your working groups continue their assigned tasks: informed consent, result reporting, and access to care.
First, informed consent: The process of discussing risks, benefits and limitations of an invasive procedure is quite familiar to most health care providers. Patients have learned to expect consultation visits prior to surgery, chemotherapy, and other major procedures. Similarly, the genetic counseling visit prior to an invasive prenatal test has become the norm. However, genetic testing procedures are becoming minimally invasive…a blood draw, a finger stick and a Guthrie card, a cheekbrush. Health care providers and patients are not accustomed to an in-depth conversation or a signed consent prior to these types of procedures. The ease of these methods of obtaining cells is deceptive, because the results of the genetic tests can have implications, which are wide sweeping, encompassing not only the patient's condition, but also his view of himself. The results may affect his family, and he may fear it will affect his insurability, his career, and his other relationships.
We must encourage health care providers to recognize the unique nature of genetic testing, and the importance of informed decision making and pre-test discussions. We understand that the SACGT working group on informed consent is considering these very issues, and we trust that their recommendations will acknowledge the importance of informed decision-making. Consumer and health care provider education is critical to this process, and we hope that the education working group will address this issue as well.
Another key issue is result reporting, which depends on knowledgeable clinicians sand clear laboratory reports. Genetic counselors are intimately involved in the interpretation of genetic lab results, and are often consulted by other health care providers to assist in deciphering them. We can attest to the conclusions of research, which shows that results can be misinterpreted by clinicians unfamiliar with genetic testing. The genetic information template under discussion today will be a tool to assist clinicians to order and interpret appropriate genetic tests. Paramount to the accurate provision of genetic test information, however, is a lab report that provides the analytical and clinical validity of the test in clear, straightforward language. We encourage the SACGT to develop guidelines for laboratories to standardize the terminology used in test reports. Lab reports should clearly indicate affected vs. carrier vs. predictive results. Penetrance, variable expression, and genotype-phenotype correlations should also be clearly discussed. A clinician's ability to accurately communicate test results is directly related to the clarity of the information contained within the report, and the clinician's understanding of the disorder in question. The SACGT can play an important role in the support of both these ends.
Finally, I would like to address the issue of Access to genetic services. Genetic counselors are committed to access to care to all individuals, both for genetic counseling and genetic testing. In fact, we adopted a position statement specifically addressing this issue, a decade ago, in 1991. Genetic counselors must often contend with the logistics of genetic testing, including obtaining insurance authorization for genetic testing. Our experiences uncover a fundamental inequity in the availability of genetic testing. Privately funded insurance carriers have come a long way in understanding and authorizing appropriate genetic studies, resulting in easier access for their members. When insurance does not authorize testing, many consider paying for services out-of-pocket, depending on the individual patient's needs, and ability to pay. Patients insured through Medicaid/Medicare funding however, are often denied coverage for genetic testing and counseling, and are least able to turn to their own financial resources to procure appropriate care.
This dilemma is compounded when the testing in question is done in only a limited number of laboratories, none of which are specifically involved in the capitation agreements associated with many Medicaid/Medicare coverage suppliers. For example, a pregnant Pennsylvania Medicaid patient at 25% risk for having a child with alpha-thalassemia requires sequencing of the alpha globin gene for herself, her partner, and her fetus. None of the reference laboratories affiliated with this plan provide the necessary testing, and the small, specialty laboratories that perform the sequencing require payment up front at the time of testing. Unless the family can pay $2000, the cost of the study, they are excluded from genetic diagnosis. This does a great disservice to these patients, as well as to their potentially at-risk relatives. Another dilemma may arise because genetic testing often depends on studies done on extended family members, but insurance plans will often cover testing for the index patient only. These barriers are not unique to the prenatal setting, but have occurred in the realms of pediatric and adult predictive testing as well.
Access to genetic services should not be determined by a patient's socioeconomic status. This gap between the wealthy and the poor is not unique to the realm of genetic testing, but the SACGT can help to narrow this gap by supporting education efforts to be directed at Medicaid/Medicare administrators, medical directors and case managers.
In summary, the National Society of Genetic Counselors applauds the efforts of the SACGT, and is committed to assisting the committee in its work to evaluate the oversight of genetic testing, test classification, consumer and health care provider education. We are committed, as well, to ensuring informed decision making and informed consent, clear communication in result reporting, and access to care for all individuals regardless of socioeconomic status. We remain available for further comment as the SACGT continues its important work, and appreciate this opportunity to participate in SACGT activities.
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