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Jul 10, 2014

Maximizing the Efficacy of Genetic Testing

Maximizing the Efficacy of Genetic Testing

Source: Andrzej -

  • Genetic counseling services provider InformedDNA released today a white paper on genetic testing. Use of these diagnostic tests is growing rapidly, but inappropriate testing has negative consequences for individuals and the U.S. health care system, according to the company.

    The paper, titled Genetic Counseling: Connecting Patients to the Power of Genetics and authored by Rebecca Sutphen, M.D., Amber Trivedi, and Kelle Steenblock, delves into the complexity of testing, gaps in physician understanding, issues regarding access, current guidelines, and the role of trained genetics specialists in helping patients maximize the effectiveness of genetic testing, while avoiding unnecessary, wasteful testing.

    "Genetic counseling provided by trained specialists can bridge the gap between patients and the appropriate use of genetic testing. It provides an evidence-based solution that allows specialists to ensure the right patient gets the right test," said Dr. Sutphen, president and chief medical officer of InformedDNA. "The results of a genetic test can also have an enormous impact on future health care-related choices. Genetics specialists help patients evaluate their results and make more informed choices based on the best and most current information available."

    While genetic testing can provide a life-saving service, it only paints a partial picture of a patient's health risks. To accurately determine a patient's risk-profile, the following steps are taken by genetic specialists:

    • Conduct a complete personal and family history risk assessment.
    • Determine whether a patient is appropriate for genetic testing and, if so, which test is right for them.
    • If a test is ordered, interpret the results in the context of the patient's family history and help them develop a personalized care plan in coordination with their physicians.

    However, there are gaps in physician knowledge of genetics and with more than 10,000 genetic tests available, it's not surprising that as many as half of tests are ordered inappropriately. Misuse of genetic testing can carry a number of unintended consequences. In 2010, annual spending on genetic testing eclipsed $5 billion and could reach $25 billion within a decade.

    As payers continue to look for ways to reduce costs, consulting with genetic specialists can safeguard insurers against paying for diagnostics that are not medically useful, while also improving quality of care.

    "Inappropriate testing can have unintended consequences for patients, even beyond their individual health," noted Steenblock, InformedDNA's senior vp for clinical services. "Genetic counselors help patients navigate these difficult issues."

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