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PROVIDERS AND PATIENTS IN THE CLINICAL SETTING: GENETIC TESTING AND MENTAL ILLNESS Holly L. Peay, MS CGC NCHPEG Importance of Education: Genetic Testing and Mental Illness Highly prevalent group of disorders Etiologically complex Increased risk to relatives Strong interest in genetic testing from affected individuals and family members Perceived utility not known High perceived burden Perceived cause commonly includes genetics Genetic Susceptibility Testing Provides a risk for a particular disorder or group of disorders Will never provide yes/no answers Testing can include one or many genes Difficult to imagine a more complex educational challenge When is the time right for an educational initiative? Needs Assessment Focus Group and Interviews Needs Assessment: Partnership with IntegraGen Is now the time for education about evaluating genetic susceptibility testing? What are providers’ perceptions? What do they need to know? [Simulated ad] Genetic Risk Assessment for Autism ACME Laboratories is now offering genetic susceptibility testing to identify those at very high risk for autism. For whom: siblings of children diagnosed with autism What: analysis of risk alleles in 4 genes to identify children at high risk Why: early identification and intervention for those with high-risk scores on the genetic test Major Barriers Time and reimbursement Insufficient knowledge Perceived utility of test Not knowing how to start the conversation & discuss these issues Unclear how to intervene with positive result Perceived Benefits Potential psychological benefits to the parents Providers would be very interested if the test results were associated with interventions for at-risk sibs. Potential to better understand the disorder Use of Testing Providers want to incorporate genetic testing with other risk factors for integrated risk assessment. Corresponds to providers’ perception of complex etiology Provider interested in using test to aid early diagnosis Educational Needs Terminology The genetic terminology was unfamiliar to the majority of the attendees. Statistical concepts, e.g., sensitivity and specificity, positive and negative predictive value, especially in this context Risk alleles, SNPs, etc The concept of susceptibility was familiar, but providers requested information about applying it in this context. Use of Testing Providers need to know what they would do differently before they order the testing. Providers need to understand the “proper” use of the test. (Un)anticipated uses: Prenatal diagnosis Adult sibs concerned about affected child Risk in sibs of children with other ASDs Infants at average risk Populations and Phenotypes Providers need to understand the appropriate population(s) for testing. Providers may tend to assume generalizability. Inability of test to predict the severity of the disorder reduces utility for families Providers need to understand the phenotype, e.g., autism vs ASDs Understanding Test Capabilities What is the ability of only 4 genes to discriminate autism? What do we know about the 4 genes? Concerns about ability to evaluate the test’s detection rate, accuracy, and predictive abilities. Understanding Results Understanding the risk score How is it possible to draw a “bright line” between high risk and not high risk? Concern that the symptoms in a child who had a “low risk” test result might be discounted by parents or professionals Risk Need to understand the complex etiology of autism before providers can interpret this test focus on gxe Understand baseline risks (comparing to empiric risks) Interpret the risk score, sensitivity, specificity, odds ratios, positive and negative predictive values Risk Odds ratios and natural numbers much more familiar and meaningful to healthcare professionals Need access to other resources to understand risks evaluation as applied to genetics Cost Providers need to be able to help parents evaluate the cost/benefit ratio Provider Education Educate a wide range of providers Point-of-care/just-in-time materials Use a series of vignettes to help providers appreciate application Evaluation: focus on clinical utility Terminology tutorial Statistics concepts in genetics 101 Patient/Public Education The public does not understand the interaction of genes and environment that is necessary to cause most cases of autism. The average individual has limited understanding of statistics. These parents have already had the ‘rare’ experience happen to them, and they are likely to perceive risk through that perspective. Patient/Public Education Need to understand susceptibility/screening vs diagnostic testing Need to understand risks and benefits, possible outcomes of the test, and what those outcomes mean in terms of risk and interventions People who have strongly-held perceptions of etiology (e.g., vaccine exposure) may find it difficult to appreciate the applicability of genetic susceptibility testing.