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Five years of precision – cfDNA as a case example

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31-40538R1.0_0916 2011 2012 2013 2014 2015 2012 2013 2014 2015 AND BEYOND Five years of precision – cfDNA as a case example Mathias Ehrich, Dirk van den Boom, Daniel Grosu Insurance Coverage Recommended Use Publications and Clinical Utilization Trends No coverage High risk Insurance coverage started with a few select health plans. As more clinical studies became available and more medical societies encouraged cfDNA testing, more Insurance companies issued positive coverage decisions. Before the introduction of non invasive prenatal testing by cfDNA the common aneuploidy screening methodologies yielded a high amount of false positive results (5% and more). Consequently when first introduced, cfDNA testing was primarily used in patients with positive screening results to confirm the results, or identify them as false positive. As more data became available specific studies suggested that the superior sensitivity and specificity of NIPT for the detection of aneuploidies will apply to all women, not only those at high risk. However, concerns have been raised over replacing traditional screening methods with cfDNA testing because traditional screening methodologies also identify chromosomal abnormalities outside of trisomies 13, 18 and 21. One study suggest that up to 20% of abnormalities could be missed. With the onset of new cfDNA technologies that allow genome wide testing of chromosomal abnormalities this discussion remains active. In October 2011 the first cfDNA test was launched commercially *Estimation for subchromosomal deletion and duplication >7Mb Note: The fractions displayed in charts are estimates * These numbers are estimates and do not reflect sample volume in the commercial laboratory By 2015 the majority of insurance companies had issued positive coverage guidelines. However, they mostly covered women at high risk for trisomy. More recently some insurance companies have started to cover NIPT for all women regardless of their risk status. Broad coverage for women at high risk Starting coverage for all women All women 1,500,000 samples* 1,500 samples* Google Trends on "NIPT" 75 100 50 25 0 United States United States Europe Hong Kong 1 number of laboratories 3 10+ 20+ 50+ 2011 2016 T21 T18 T13 SCA Other trisomy (limited) Subchromosomal* (limited) T21 T18 T13 SCA T21 T18 T13 T21 T21 T18 T13 SCA Other trisomy (full) Subchromosomal* (full) T21 T18 T13 SCA Other trisomy (full) Subchromosomal* (full) Triploidy Worldwide

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