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๐—™๐——๐—” ๐—ข๐—ฉ๐—˜๐—ฅ๐—ฆ๐—œ๐—š๐—›๐—ง ๐—ก๐—˜๐—˜๐——๐—˜๐—— ๐—ฆ๐—ข ๐—Ÿ๐—”๐—• ๐—ง๐—˜๐—ฆ๐—ง๐—ฆ ๐——๐—ข ๐— ๐—ข๐—ฅ๐—˜ ๐—š๐—ข๐—ข๐—— ๐—ง๐—›๐—”๐—ก ๐—›๐—”๐—ฅ๐—  

๐“๐ก๐ž Center for Genomic Interpretation (CGI) ๐ฌ๐ฎ๐ฉ๐ฉ๐จ๐ซ๐ญ๐ฌ ๐ญ๐ก๐ž ๐—ฉ๐—”๐—Ÿ๐—œ๐—— (๐—ฉ๐—ฒ๐—ฟ๐—ถ๐—ณ๐˜†๐—ถ๐—ป๐—ด ๐—”๐—ฐ๐—ฐ๐˜‚๐—ฟ๐—ฎ๐˜๐—ฒ, ๐—Ÿ๐—ฒ๐—ฎ๐—ฑ๐—ถ๐—ป๐—ด-๐—ฒ๐—ฑ๐—ด๐—ฒ ๐—œ๐—ฉ๐—–๐—ง ๐——๐—ฒ๐˜ƒ๐—ฒ๐—น๐—ผ๐—ฝ๐—บ๐—ฒ๐—ป๐˜) ๐—”๐—ฐ๐˜. This bill was introduced in Congress in December 2018, but is picking up momentum again amidst recent lawsuits targeting clinical labs due to inaccuracies seen in Laboratory Developed Tests (LDTs). This doctor-ordered clinical testing market is referred to in the article referenced below as the โ€œWild Westโ€. LDTs are regulatory blind spots with no #FDA oversight. Over 99% of the tests currently marketed in the Clinical Genetic and Genomic testing arena that drive patient care are LDTs. ๐—ช๐—ต๐˜† ๐—ฎ๐—ฟ๐—ฒ ๐—Ÿ๐——๐—ง๐˜€ ๐—ฎ ๐—ฝ๐—ฟ๐—ผ๐—ฏ๐—น๐—ฒ๐—บ?

๐—ฃ๐—ฎ๐˜๐—ถ๐—ฒ๐—ป๐˜๐˜€ ๐—ฎ๐—ฟ๐—ฒ ๐—ก๐—ข๐—ง ๐—ป๐—ฒ๐—ฐ๐—ฒ๐˜€๐˜€๐—ฎ๐—ฟ๐—ถ๐—น๐˜† ๐—ด๐—ฒ๐˜๐˜๐—ถ๐—ป๐—ด ๐—ฎ๐—ฐ๐—ฐ๐˜‚๐—ฟ๐—ฎ๐˜๐—ฒ ๐—ฟ๐—ฒ๐˜€๐˜‚๐—น๐˜๐˜€ ๐˜๐—ต๐—ฎ๐˜ ๐—ฎ๐˜€๐˜€๐—ถ๐˜€๐˜ ๐˜๐—ต๐—ฒ๐—บ ๐—ถ๐—ป ๐—บ๐—ฎ๐—ธ๐—ถ๐—ป๐—ด ๐—ฑ๐—ฒ๐—ฐ๐—ถ๐˜€๐—ถ๐—ผ๐—ป๐˜€ ๐˜„๐—ถ๐˜๐—ต ๐—น๐—ถ๐—ณ๐—ฒ ๐—ฎ๐—น๐˜๐—ฒ๐—ฟ๐—ถ๐—ป๐—ด ๐—ถ๐—บ๐—ฝ๐—ฎ๐—ฐ๐˜. If these tests are wrong, patientsโ€™ lives change, and oftentimes not for the betterโ€ฆSome examples include:  

  • Cancer therapies that could potentially extend life are not an option
  • Expecting mothers terminate healthy pregnancies due to a false positive test result
  • A woman chooses to remove her breasts or ovaries when those surgeries werenโ€™t necessary

What if this was your family member, friend or a patient you are treating or covering as a Health Insurance payer?  Wouldnโ€™t you want the test that is ordered to help you and your healthcare team make the right decision for your medical management to be accurate?  

A recent article published on March 16, 2022 by Adam Bonislawski, 360Dx shared both sides of this argument in the article:  FDA Control of LDTs Looms as Momentum Builds for the VALID Act.  https://www.360dx.com/policy-legislation/fda-control-ldts-looms-momentum-builds-valid-act#.YjJArWDMJD8 

This ๐—ฏ๐—ถ-๐—ฝ๐—ฎ๐—ฟ๐˜๐—ถ๐˜€๐—ฎ๐—ป ๐—ฏ๐—ถ๐—น๐—น would change the regulation of the LDT space giving the FDA unquestionable oversight.  What follows are a few extra thoughts from CGI on the hoped for passing of this much needed regulation to improve patient care, as well as CGI responses to some of the embedded quotes (๐˜ช๐˜ต๐˜ข๐˜ญ๐˜ช๐˜ค๐˜ด) in the 360Dx article.

All of the high volume genetic and genomic LDT labs have CLIA certification and #CAP accreditation. These are helpful to some degree, but do NOT provide true evaluation or checking to see if all of the different types of tests being offered by these labs are actually accurate and clinically valid.

โ€œ๐˜๐˜ฏ ๐˜ข๐˜ฏ ๐˜ฆ๐˜ฎ๐˜ข๐˜ช๐˜ญ, ๐˜š๐˜ต๐˜ฆ๐˜ฑ๐˜ฉ๐˜ฆ๐˜ฏ ๐˜”๐˜ข๐˜ด๐˜ต๐˜ฆ๐˜ณ, ๐˜ˆ๐˜ˆ๐˜Š๐˜Š ๐˜ฑ๐˜ณ๐˜ฆ๐˜ด๐˜ช๐˜ฅ๐˜ฆ๐˜ฏ๐˜ต [๐˜ˆ๐˜ฎ๐˜ฆ๐˜ณ๐˜ช๐˜ค๐˜ข๐˜ฏ ๐˜ˆ๐˜ด๐˜ด๐˜ฐ๐˜ค๐˜ช๐˜ข๐˜ต๐˜ช๐˜ฐ๐˜ฏ ๐˜ง๐˜ฐ๐˜ณ ๐˜Š๐˜ญ๐˜ช๐˜ฏ๐˜ช๐˜ค๐˜ข๐˜ญ ๐˜Š๐˜ฉ๐˜ฆ๐˜ฎ๐˜ช๐˜ด๐˜ต๐˜ณ๐˜บ], ๐˜ข๐˜ฏ๐˜ฅ ๐˜ค๐˜ฉ๐˜ช๐˜ฆ๐˜ง ๐˜ฐ๐˜ง ๐˜ต๐˜ฉ๐˜ฆ ๐˜ฅ๐˜ช๐˜ท๐˜ช๐˜ด๐˜ช๐˜ฐ๐˜ฏ ๐˜ฐ๐˜ง ๐˜ญ๐˜ข๐˜ฃ๐˜ฐ๐˜ณ๐˜ข๐˜ต๐˜ฐ๐˜ณ๐˜บ ๐˜ฎ๐˜ฆ๐˜ฅ๐˜ช๐˜ค๐˜ช๐˜ฏ๐˜ฆ ๐˜ข๐˜ต ๐˜Š๐˜ฉ๐˜ช๐˜ญ๐˜ฅ๐˜ณ๐˜ฆ๐˜ฏ’๐˜ด ๐˜๐˜ฐ๐˜ด๐˜ฑ๐˜ช๐˜ต๐˜ข๐˜ญ ๐˜ฐ๐˜ง ๐˜—๐˜ฉ๐˜ช๐˜ญ๐˜ข๐˜ฅ๐˜ฆ๐˜ญ๐˜ฑ๐˜ฉ๐˜ช๐˜ข, ๐˜ฏ๐˜ฐ๐˜ต๐˜ฆ๐˜ฅ ๐˜ต๐˜ฉ๐˜ข๐˜ต ๐˜ธ๐˜ฉ๐˜ช๐˜ญ๐˜ฆ “๐˜Š๐˜“๐˜๐˜ˆ ๐˜ช๐˜ต๐˜ด๐˜ฆ๐˜ญ๐˜ง ๐˜ฅ๐˜ฐ๐˜ฆ๐˜ด ๐˜ฏ๐˜ฐ๐˜ต ๐˜ณ๐˜ฆ๐˜ฒ๐˜ถ๐˜ช๐˜ณ๐˜ฆ ๐˜ค๐˜ญ๐˜ช๐˜ฏ๐˜ช๐˜ค๐˜ข๐˜ญ ๐˜ญ๐˜ข๐˜ฃ๐˜ฐ๐˜ณ๐˜ข๐˜ต๐˜ฐ๐˜ณ๐˜ช๐˜ฆ๐˜ด ๐˜ต๐˜ฐ ๐˜ฆ๐˜ด๐˜ต๐˜ข๐˜ฃ๐˜ญ๐˜ช๐˜ด๐˜ฉ ๐˜ต๐˜ฉ๐˜ฆ ๐˜ค๐˜ญ๐˜ช๐˜ฏ๐˜ช๐˜ค๐˜ข๐˜ญ ๐˜ท๐˜ข๐˜ญ๐˜ช๐˜ฅ๐˜ช๐˜ต๐˜บ ๐˜ฐ๐˜ง ๐˜“๐˜‹๐˜›๐˜ด, ๐˜ต๐˜ฉ๐˜ฆ ๐˜Š๐˜ฐ๐˜ญ๐˜ญ๐˜ฆ๐˜จ๐˜ฆ ๐˜ฐ๐˜ง ๐˜ˆ๐˜ฎ๐˜ฆ๐˜ณ๐˜ช๐˜ค๐˜ข๐˜ฏ ๐˜—๐˜ข๐˜ต๐˜ฉ๐˜ฐ๐˜ญ๐˜ฐ๐˜จ๐˜ช๐˜ด๐˜ต๐˜ด [๐˜Š๐˜ˆ๐˜—] ๐˜ข๐˜ฏ๐˜ฅ ๐˜ต๐˜ฉ๐˜ฆ ๐˜‘๐˜ฐ๐˜ช๐˜ฏ๐˜ต ๐˜Š๐˜ฐ๐˜ฎ๐˜ฎ๐˜ช๐˜ด๐˜ด๐˜ช๐˜ฐ๐˜ฏ โ€” ๐˜ฃ๐˜ฐ๐˜ต๐˜ฉ ๐˜ฐ๐˜ง ๐˜ธ๐˜ฉ๐˜ช๐˜ค๐˜ฉ ๐˜ข๐˜ณ๐˜ฆ ๐˜ฅ๐˜ฆ๐˜ฆ๐˜ฎ๐˜ฆ๐˜ฅ ๐˜ข๐˜ค๐˜ค๐˜ณ๐˜ฆ๐˜ฅ๐˜ช๐˜ต๐˜ช๐˜ฏ๐˜จ ๐˜ฐ๐˜ณ๐˜จ๐˜ข๐˜ฏ๐˜ช๐˜ป๐˜ข๐˜ต๐˜ช๐˜ฐ๐˜ฏ๐˜ด ๐˜ถ๐˜ฏ๐˜ฅ๐˜ฆ๐˜ณ ๐˜Š๐˜“๐˜๐˜ˆ โ€” ๐˜ฅ๐˜ฐ ๐˜ณ๐˜ฆ๐˜ฒ๐˜ถ๐˜ช๐˜ณ๐˜ฆ ๐˜ต๐˜ฉ๐˜ข๐˜ต ๐˜ญ๐˜ข๐˜ฃ๐˜ด ๐˜ฅ๐˜ฐ๐˜ค๐˜ถ๐˜ฎ๐˜ฆ๐˜ฏ๐˜ต ๐˜ค๐˜ญ๐˜ช๐˜ฏ๐˜ช๐˜ค๐˜ข๐˜ญ ๐˜ท๐˜ข๐˜ญ๐˜ช๐˜ฅ๐˜ข๐˜ต๐˜ช๐˜ฐ๐˜ฏ ๐˜ฐ๐˜ง ๐˜“๐˜‹๐˜›๐˜ด.” https://www.360dx.com/policy-legislation/fda-control-ldts-looms-momentum-builds-valid-act#.YjJArWDMJD8 

CGIโ€™s response: It is true that CLIA does not require clinical validity. The remainder of ๐——๐—ฟ. ๐— ๐—ฎ๐˜€๐˜๐—ฒ๐—ฟโ€™๐˜€ ๐—ฐ๐—ผ๐—บ๐—บ๐—ฒ๐—ป๐˜ ๐—ต๐—ผ๐˜„๐—ฒ๐˜ƒ๐—ฒ๐—ฟ ๐—ถ๐˜€ ๐—ถ๐—ป๐˜๐—ฒ๐—ป๐˜๐—ถ๐—ผ๐—ป๐—ฎ๐—น๐—น๐˜† ๐—ผ๐—ฏ๐—ณ๐˜‚๐˜€๐—ฐ๐—ฎ๐˜๐—ถ๐—ป๐—ด. CAP promotes itself as the superior and complete solution to the clinical validity problem of laboratory testing. However, for genetic/genomic testing, only one CAP checklist requirement addresses clinical validity. CAPโ€™s evidence of compliance requires only the following: โ€œRecords of validation studies to establish clinical performance and/or appropriate cited literature.โ€

The laboratory can effectively make up their own parameters for how to validate their test, both clinically and analytically. Therefore, ๐—บ๐—ฎ๐—ป๐˜† ๐—น๐—ฎ๐—ฏ๐—ผ๐—ฟ๐—ฎ๐˜๐—ผ๐—ฟ๐—ถ๐—ฒ๐˜€ ๐—ฑ๐—ฒ๐—ฝ๐—น๐—ผ๐˜† ๐—ถ๐—ป๐—ฒ๐—ณ๐—ณ๐—ฒ๐—ฐ๐˜๐—ถ๐˜ƒ๐—ฒ ๐—ผ๐—ฟ ๐—ถ๐—ป๐—ฐ๐—ผ๐—บ๐—ฝ๐—น๐—ฒ๐˜๐—ฒ ๐˜ƒ๐—ฎ๐—น๐—ถ๐—ฑ๐—ฎ๐˜๐—ถ๐—ผ๐—ป ๐˜€๐˜๐˜‚๐—ฑ๐—ถ๐—ฒ๐˜€ ๐—ณ๐—ผ๐—ฟ ๐˜๐—ต๐—ฒ๐—ถ๐—ฟ ๐˜๐—ฒ๐˜€๐˜๐˜€, ๐˜€๐—ผ๐—บ๐—ฒ๐˜๐—ถ๐—บ๐—ฒ๐˜€ ๐—ถ๐—ป๐˜๐—ฒ๐—ป๐˜๐—ถ๐—ผ๐—ป๐—ฎ๐—น๐—น๐˜† ๐—ฑ๐—ฒ๐˜€๐—ถ๐—ด๐—ป๐—ฒ๐—ฑ ๐˜๐—ผ ๐—ต๐—ถ๐—ฑ๐—ฒ ๐—ณ๐—น๐—ฎ๐˜„๐˜€. Or they simply cite literature without any direct clinical studies of their own test, remaining unaware that their own test is clinically inaccurate or ineffective. ๐—ง๐—ต๐—ฒ๐˜€๐—ฒ ๐—น๐—ฎ๐—ฏ๐˜€ ๐—ฎ๐—ฟ๐—ฒ ๐˜€๐˜๐—ถ๐—น๐—น ๐—ถ๐—ป ๐—–๐—”๐—ฃ ๐—ฐ๐—ผ๐—บ๐—ฝ๐—น๐—ถ๐—ฎ๐—ป๐—ฐ๐—ฒ. This means that seemingly equivalent tests from different CAP labs can vary substantially in their actual clinical performance.

Should you believe Dr. Stephen Masterโ€™s statement that CAP laboratory accreditation is sufficient to ensure clinical validity of tests coming out of that laboratory? 

NO!

Donโ€™t believe us? ๐—›๐—ฒ๐—ฟ๐—ฒ ๐—ฎ๐—ฟ๐—ฒ ๐—ฎ๐—ป๐—ผ๐—ป๐˜†๐—บ๐—ผ๐˜‚๐˜€ ๐˜€๐˜๐—ฎ๐˜๐—ฒ๐—บ๐—ฒ๐—ป๐˜๐˜€ ๐—ณ๐—ฟ๐—ผ๐—บ ๐—น๐—ฎ๐—ฏ๐—ผ๐—ฟ๐—ฎ๐˜๐—ผ๐—ฟ๐˜† ๐—ฑ๐—ถ๐—ฟ๐—ฒ๐—ฐ๐˜๐—ผ๐—ฟ๐˜€, ๐—ด๐—ถ๐˜ƒ๐—ฒ๐—ป ๐˜๐—ผ ๐˜๐—ต๐—ฒ ๐—–๐——๐—–, ๐—ฟ๐—ฒ๐˜ƒ๐—ฒ๐—ฎ๐—น๐—ถ๐—ป๐—ด ๐˜๐—ต๐—ฎ๐˜ ๐—บ๐—ผ๐˜€๐˜ ๐—ฐ๐—น๐—ถ๐—ป๐—ถ๐—ฐ๐—ฎ๐—น ๐—ด๐—ฒ๐—ป๐—ฒ๐˜๐—ถ๐—ฐ/๐—ด๐—ฒ๐—ป๐—ผ๐—บ๐—ถ๐—ฐ ๐—น๐—ฎ๐—ฏ๐˜€ ๐—ฝ๐—น๐—ฎ๐˜† ๐˜๐—ต๐—ฒ ๐˜€๐˜†๐˜€๐˜๐—ฒ๐—บ ๐—ถ๐—ป ๐—ผ๐—ฟ๐—ฑ๐—ฒ๐—ฟ ๐˜๐—ผ ๐—ต๐—ถ๐—ฑ๐—ฒ ๐˜๐—ต๐—ฒ๐—ถ๐—ฟ ๐˜๐—ฒ๐˜€๐˜๐˜€’ ๐—ณ๐—น๐—ฎ๐˜„๐˜€ ๐˜„๐—ต๐—ถ๐—น๐—ฒ ๐˜€๐˜๐—ถ๐—น๐—น ๐—ฝ๐—ฎ๐˜€๐˜€๐—ถ๐—ป๐—ด ๐—–๐—Ÿ๐—œ๐—”/๐—–๐—”๐—ฃ ๐—ฟ๐—ฒ๐—พ๐˜‚๐—ถ๐—ฟ๐—ฒ๐—ฑ ๐—ฝ๐—ฟ๐—ผ๐—ณ๐—ถ๐—ฐ๐—ถ๐—ฒ๐—ป๐—ฐ๐˜† ๐˜๐—ฒ๐˜€๐˜๐—ถ๐—ป๐—ด (๐—ฃ๐—ง):

โ€œEvery laboratory and laboratory director is scared of failing a PT, which means that laboratories want to pick the easy cases for PT.โ€ And โ€œthere is no economic incentive for trying to look at more challenging cases. In fact, there is an economic disincentive as well as the fear of failing a PT.โ€ https://www.cdc.gov/cliac/docs/addenda/cliac0419/10a_NGS_Workgroup_Report.pdf

๐—”๐—ป๐—ฑ ๐—ต๐—ฒ๐—ฟ๐—ฒโ€™๐˜€ ๐—ฎ๐—ป ๐—ฒ๐˜…๐—ฎ๐—บ๐—ฝ๐—น๐—ฒ ๐—ณ๐—ฟ๐—ผ๐—บ ๐˜๐—ต๐—ฒ ๐—น๐—ถ๐˜๐—ฒ๐—ฟ๐—ฎ๐˜๐˜‚๐—ฟ๐—ฒ ๐—ผ๐—ณ ๐—ณ๐—ผ๐˜‚๐—ฟ ๐˜๐—ฒ๐˜€๐˜๐˜€ ๐—ผ๐—ณ๐—ณ๐—ฒ๐—ฟ๐—ฒ๐—ฑ ๐—ฏ๐˜† ๐—–๐—”๐—ฃ ๐—ฎ๐—ฐ๐—ฐ๐—ฟ๐—ฒ๐—ฑ๐—ถ๐˜๐—ฒ๐—ฑ ๐—ถ๐—ป๐˜€๐˜๐—ถ๐˜๐˜‚๐˜๐—ถ๐—ผ๐—ป๐˜€ ๐˜„๐—ถ๐˜๐—ต ๐—ต๐—ถ๐—ด๐—ต๐—น๐˜† ๐˜ƒ๐—ฎ๐—ฟ๐—ถ๐—ฎ๐—ฏ๐—น๐—ฒ ๐˜๐—ฒ๐˜€๐˜ ๐—ฝ๐—ฒ๐—ฟ๐—ณ๐—ผ๐—ฟ๐—บ๐—ฎ๐—ป๐—ฐ๐—ฒ๐˜€ ๐—ณ๐—ผ๐—ฟ ๐˜€๐—ฒ๐—ฒ๐—บ๐—ถ๐—ป๐—ด๐—น๐˜† ๐—ถ๐—ฑ๐—ฒ๐—ป๐˜๐—ถ๐—ฐ๐—ฎ๐—น ๐˜๐—ฒ๐˜€๐˜๐˜€: โ€œOur orthogonal approach identified false-negative (FN) and false-positive (FP) variants with high confidence and revealed substantial variability among the ctDNA assays, with a range of sensitivity (38% to 89%) and positive predictive value (36% to 80%).โ€ https://ascopubs.org/doi/full/10.1200/PO.18.00191

Continuing with Dr. Stephen Masterโ€™s quotes from the 360Dx article: “๐˜”๐˜ข๐˜ด๐˜ต๐˜ฆ๐˜ณ, ๐˜ด๐˜ฑ๐˜ฆ๐˜ข๐˜ฌ๐˜ช๐˜ฏ๐˜จ ๐˜ฐ๐˜ฏ ๐˜ฃ๐˜ฆ๐˜ฉ๐˜ข๐˜ญ๐˜ง ๐˜ฐ๐˜ง ๐˜ˆ๐˜ˆ๐˜Š๐˜Š, ๐˜ณ๐˜ข๐˜ช๐˜ด๐˜ฆ๐˜ฅ ๐˜ด๐˜ฆ๐˜ท๐˜ฆ๐˜ณ๐˜ข๐˜ญ ๐˜ฑ๐˜ณ๐˜ช๐˜ฎ๐˜ข๐˜ณ๐˜บ ๐˜ช๐˜ด๐˜ด๐˜ถ๐˜ฆ๐˜ด ๐˜ต๐˜ฉ๐˜ฆ ๐˜ฐ๐˜ณ๐˜จ๐˜ข๐˜ฏ๐˜ช๐˜ป๐˜ข๐˜ต๐˜ช๐˜ฐ๐˜ฏ ๐˜ฉ๐˜ข๐˜ด ๐˜ณ๐˜ฆ๐˜จ๐˜ข๐˜ณ๐˜ฅ๐˜ช๐˜ฏ๐˜จ ๐˜ต๐˜ฉ๐˜ฆ ๐˜๐˜ˆ๐˜“๐˜๐˜‹ ๐˜ˆ๐˜ค๐˜ต, ๐˜ช๐˜ฏ๐˜ค๐˜ญ๐˜ถ๐˜ฅ๐˜ช๐˜ฏ๐˜จ ๐˜ต๐˜ฉ๐˜ฆ ๐˜ง๐˜ข๐˜ค๐˜ต ๐˜ต๐˜ฉ๐˜ข๐˜ต ๐˜ต๐˜ฉ๐˜ฆ ๐˜ญ๐˜ข๐˜ธ’๐˜ด ๐˜ฑ๐˜ณ๐˜ฐ๐˜ฑ๐˜ฐ๐˜ด๐˜ข๐˜ญ ๐˜ต๐˜ฐ ๐˜จ๐˜ณ๐˜ข๐˜ฏ๐˜ฅ๐˜ง๐˜ข๐˜ต๐˜ฉ๐˜ฆ๐˜ณ ๐˜ช๐˜ฏ ๐˜ฆ๐˜น๐˜ช๐˜ด๐˜ต๐˜ช๐˜ฏ๐˜จ ๐˜“๐˜‹๐˜›๐˜ด ๐˜ค๐˜ฐ๐˜ถ๐˜ญ๐˜ฅ ๐˜ฑ๐˜ณ๐˜ฆ๐˜ท๐˜ฆ๐˜ฏ๐˜ต ๐˜ญ๐˜ข๐˜ฃ๐˜ด ๐˜ง๐˜ณ๐˜ฐ๐˜ฎ ๐˜ฎ๐˜ข๐˜ฌ๐˜ช๐˜ฏ๐˜จ ๐˜ฏ๐˜ฆ๐˜ฆ๐˜ฅ๐˜ฆ๐˜ฅ ๐˜ถ๐˜ฑ๐˜ฅ๐˜ข๐˜ต๐˜ฆ๐˜ด ๐˜ต๐˜ฐ ๐˜ต๐˜ฉ๐˜ฐ๐˜ด๐˜ฆ ๐˜“๐˜‹๐˜›๐˜ด ๐˜ฅ๐˜ฐ๐˜ธ๐˜ฏ ๐˜ต๐˜ฉ๐˜ฆ ๐˜ณ๐˜ฐ๐˜ข๐˜ฅ ๐˜ช๐˜ง ๐˜ช๐˜ต ๐˜ธ๐˜ช๐˜ญ๐˜ญ ๐˜ณ๐˜ฆ๐˜ฒ๐˜ถ๐˜ช๐˜ณ๐˜ฆ ๐˜ต๐˜ข๐˜ฌ๐˜ช๐˜ฏ๐˜จ ๐˜ต๐˜ฉ๐˜ฆ๐˜ฎ ๐˜ต๐˜ฉ๐˜ณ๐˜ฐ๐˜ถ๐˜จ๐˜ฉ ๐˜ต๐˜ฉ๐˜ฆ ๐˜ฏ๐˜ฆ๐˜ธ ๐˜ณ๐˜ฆ๐˜จ๐˜ถ๐˜ญ๐˜ข๐˜ต๐˜ฐ๐˜ณ๐˜บ ๐˜ฑ๐˜ณ๐˜ฐ๐˜ค๐˜ฆ๐˜ด๐˜ด; ๐˜ต๐˜ฉ๐˜ฆ ๐˜ฑ๐˜ฐ๐˜ต๐˜ฆ๐˜ฏ๐˜ต๐˜ช๐˜ข๐˜ญ๐˜ญ๐˜บ ๐˜ฃ๐˜ถ๐˜ณ๐˜ฅ๐˜ฆ๐˜ฏ๐˜ด๐˜ฐ๐˜ฎ๐˜ฆ ๐˜ฏ๐˜ข๐˜ต๐˜ถ๐˜ณ๐˜ฆ ๐˜ฐ๐˜ง ๐˜ต๐˜ฉ๐˜ฆ ๐˜ข๐˜ฅ๐˜ท๐˜ฆ๐˜ณ๐˜ด๐˜ฆ ๐˜ฆ๐˜ท๐˜ฆ๐˜ฏ๐˜ต๐˜ด ๐˜ณ๐˜ฆ๐˜ฑ๐˜ฐ๐˜ณ๐˜ต๐˜ช๐˜ฏ๐˜จ ๐˜ด๐˜บ๐˜ด๐˜ต๐˜ฆ๐˜ฎ ๐˜ต๐˜ฉ๐˜ฆ ๐˜ญ๐˜ข๐˜ธ ๐˜ธ๐˜ช๐˜ญ๐˜ญ ๐˜ณ๐˜ฆ๐˜ฒ๐˜ถ๐˜ช๐˜ณ๐˜ฆ ๐˜ต๐˜ฆ๐˜ด๐˜ต ๐˜ฅ๐˜ฆ๐˜ท๐˜ฆ๐˜ญ๐˜ฐ๐˜ฑ๐˜ฆ๐˜ณ๐˜ด ๐˜ต๐˜ฐ ๐˜ฎ๐˜ข๐˜ช๐˜ฏ๐˜ต๐˜ข๐˜ช๐˜ฏ; ๐˜ข๐˜ฏ๐˜ฅ ๐˜ต๐˜ฉ๐˜ฆ ๐˜ค๐˜ฐ๐˜ฏ๐˜ค๐˜ฆ๐˜ณ๐˜ฏ ๐˜ต๐˜ฉ๐˜ข๐˜ต ๐˜ฏ๐˜ฆ๐˜ธ ๐˜ถ๐˜ด๐˜ฆ๐˜ณ๐˜ด ๐˜ง๐˜ฆ๐˜ฆ๐˜ด ๐˜ข๐˜ฑ๐˜ฑ๐˜ญ๐˜ช๐˜ฆ๐˜ฅ ๐˜ต๐˜ฐ ๐˜“๐˜‹๐˜›๐˜ด ๐˜ค๐˜ฐ๐˜ถ๐˜ญ๐˜ฅ ๐˜ฑ๐˜ณ๐˜ฆ๐˜ท๐˜ฆ๐˜ฏ๐˜ต ๐˜ฎ๐˜ข๐˜ฏ๐˜บ ๐˜ญ๐˜ข๐˜ฃ๐˜ด ๐˜ง๐˜ณ๐˜ฐ๐˜ฎ ๐˜ฅ๐˜ฆ๐˜ท๐˜ฆ๐˜ญ๐˜ฐ๐˜ฑ๐˜ช๐˜ฏ๐˜จ ๐˜ข๐˜ฏ๐˜ฅ ๐˜ฐ๐˜ง๐˜ง๐˜ฆ๐˜ณ๐˜ช๐˜ฏ๐˜จ ๐˜ต๐˜ฉ๐˜ฆ๐˜ด๐˜ฆ ๐˜ต๐˜ฆ๐˜ด๐˜ต๐˜ด.โ€ 

CGIโ€™s response: Considering that the results of many clinical genetic or genomic tests can have as much or even more clinical impact on patients as the riskiest of prescribed drugs, we consider it appropriate and necessary for clinical genetic/genomic tests to have the same robust oversight that pharmaceuticals have in the USA. The reporting to the FDA of adverse events in drug administration is critical for the improvement and protection of population health. The reporting of adverse events for clinical genetic and genomic tests is equally important, since many genetic/genomic tests guide patient care pathways, conclude diagnostic odysseys, guide drug therapy, lead to irreversible organ removal, and can result in medically advised termination of pregnancies. It would be ludicrous to suggest that the FDA cease its oversight of pharmaceuticals in the USA because it is too burdensome, time consuming, expensive or inhibits innovation. It is equally ludicrous to allow an equally impactful healthcare sector to not be held to the same standards as the pharmaceutical industry because itโ€™s just โ€œtoo hardโ€ or expensive. The market will adjust to the increased costs of FDA regulated genetic/genomic testing, and overall cost savings are likely to be realized by the healthcare system since fewer patients will be clinically mismanaged. With accurate and clinically efficacious genetic and genomic tests, Precision Medicine might finally consistently deliver on its lofty promises.

CGIโ€™s response: ๐—ช๐—ผ๐˜‚๐—น๐—ฑ ๐˜๐—ต๐—ฒ ๐—ฟ๐—ฒ๐—พ๐˜‚๐—ถ๐—ฟ๐—ฒ๐—บ๐—ฒ๐—ป๐˜ ๐˜๐—ผ ๐—ฝ๐—ฎ๐˜† ๐—™๐——๐—” ๐˜‚๐˜€๐—ฒ๐—ฟ ๐—ณ๐—ฒ๐—ฒ๐˜€ ๐—ณ๐—ผ๐—ฟ ๐—ฎ ๐—ด๐—ฒ๐—ป๐—ฒ๐˜๐—ถ๐—ฐ/๐—ด๐—ฒ๐—ป๐—ผ๐—บ๐—ถ๐—ฐ ๐˜๐—ฒ๐˜€๐˜ ๐—ฟ๐—ฒ๐—ฎ๐—น๐—น๐˜† ๐—ฏ๐—ฒ ๐˜๐—ผ๐—ผ ๐—ฒ๐˜…๐—ฝ๐—ฒ๐—ป๐˜€๐—ถ๐˜ƒ๐—ฒ ๐—ณ๐—ผ๐—ฟ ๐—น๐—ฎ๐—ฏ๐˜€? Yes, probably for labs that are already skimping on quality. But not for well run labs. For comparison, the reimbursement of different genetic/genomic tests range from $150-$15,000 per test, and most labs are running between 50 to 3,500 tests a day. DNA sequencing instruments cost between $275,000 to $850,000. The cost of sequencing instruments is minor compared to the cost of the reagents and staff needed to run them. So labs are accustomed to big ticket expenses. So with that in mind, hereโ€™s the FDA fees labs are trying to argue are too costly for them (to keep patients safe):

*$5,672 annually for registration fees

*$12,745 per application per test for 510(k) (most common for genetic and genomic tests, which are usually copy-cat tests, e.g. BRCA sequencing)

*$374,858 for Companion Diagnostic (CDx) labeling claim or other high-risk testing (e.g. FoundationOne CDx)

https://www.fda.gov/industry/fda-user-fee-programs/medical-device-user-fee-amendments-mdufa

๐—–๐—š๐—œโ€™๐˜€ ๐—™๐—ถ๐—ป๐—ฎ๐—น ๐—ง๐—ต๐—ผ๐˜‚๐—ด๐—ต๐˜๐˜€:  If laboratories are already resourcing internal quality control and assurance programs and performing thorough analytical and clinical validations before they launch tests (and as part of each test update), then the added burden of FDA approval and adverse event reporting should be only a small fraction of laboratoriesโ€™ internal quality assurance expenditures. Since delivering accurate and reliable genetic/genomic tests is expensive for laboratories, laboratories that cannot afford to demonstrate accuracy and reliability to the FDA very likely do not have the means to provide accurate and reliable testing.

This regulation has been long overdue and we hope that the VALID Act passes in order to give the FDA oversight of clinical genetic and genomic tests. However, one major concern is that the VALID act as it is presently written will grandfather in currently existing LDTs, including those tests with unproven clinical accuracy and validity. Therefore, the Center for Genomic Interpretation expects to continue to work with health insurance payers through the Centerโ€™s ELEVATEGENETICS initiative to protect their plan members from harmful genetic and genomic tests even long after the hoped for passing of the VALID Act.

CONTACT CGI TODAY: Contact us today to learn more about how we can help you, your organization, your plan members and your patients. Call (801) 810-4097 and visit genomicinterpretation.org. Please email truth-in-genomics@genomicinterpretation.org to sign up for our monthly newsletter to stay up to date with the rapidly evolving  genetic and genomic testing space!

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The Center for Genomic Interpretation โ€“ www.genomicinterpretation.org

The Center for Genomic Interpretation (CGI) is an independent 501(c)(3) nonprofit organization with the mission to save and improve lives through encouraging careful stewardship of clinical genetics, genomics and precision medicine. Too frequently the precision medicine goals of patients and their providers are unknowingly thwarted by inaccurate or ineffective genetic or genomic testing. We facilitate the realization of value from among the confusing scramble of the new precision medicine era. The CGI team consists of clinical genetics and genomics scientific leaders, healthcare policy veterans, experienced business professionals, and others dedicated to helping stakeholders achieve the vision and promise of precision medicine.  CGI offers a range of programs and services targeted to all stakeholders including patients, providers, payers, pharmaceutical developers, policy makers and laboratories.