๐๐๐ ๐ข๐ฉ๐๐ฅ๐ฆ๐๐๐๐ง ๐ก๐๐๐๐๐ ๐ฆ๐ข ๐๐๐ ๐ง๐๐ฆ๐ง๐ฆ ๐๐ข ๐ ๐ข๐ฅ๐ ๐๐ข๐ข๐ ๐ง๐๐๐ก ๐๐๐ฅ๐
๐๐ก๐ Center for Genomic Interpretation (CGI) ๐ฌ๐ฎ๐ฉ๐ฉ๐จ๐ซ๐ญ๐ฌ ๐ญ๐ก๐ ๐ฉ๐๐๐๐ (๐ฉ๐ฒ๐ฟ๐ถ๐ณ๐๐ถ๐ป๐ด ๐๐ฐ๐ฐ๐๐ฟ๐ฎ๐๐ฒ, ๐๐ฒ๐ฎ๐ฑ๐ถ๐ป๐ด-๐ฒ๐ฑ๐ด๐ฒ ๐๐ฉ๐๐ง ๐๐ฒ๐๐ฒ๐น๐ผ๐ฝ๐บ๐ฒ๐ป๐) ๐๐ฐ๐. 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 โWild 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. ๐ช๐ต๐ ๐ฎ๐ฟ๐ฒ ๐๐๐ง๐ ๐ฎ ๐ฝ๐ฟ๐ผ๐ฏ๐น๐ฒ๐บ?
๐ฃ๐ฎ๐๐ถ๐ฒ๐ป๐๐ ๐ฎ๐ฟ๐ฒ ๐ก๐ข๐ง ๐ป๐ฒ๐ฐ๐ฒ๐๐๐ฎ๐ฟ๐ถ๐น๐ ๐ด๐ฒ๐๐๐ถ๐ป๐ด ๐ฎ๐ฐ๐ฐ๐๐ฟ๐ฎ๐๐ฒ ๐ฟ๐ฒ๐๐๐น๐๐ ๐๐ต๐ฎ๐ ๐ฎ๐๐๐ถ๐๐ ๐๐ต๐ฒ๐บ ๐ถ๐ป ๐บ๐ฎ๐ธ๐ถ๐ป๐ด ๐ฑ๐ฒ๐ฐ๐ถ๐๐ถ๐ผ๐ป๐ ๐๐ถ๐๐ต ๐น๐ถ๐ณ๐ฒ ๐ฎ๐น๐๐ฒ๐ฟ๐ถ๐ป๐ด ๐ถ๐บ๐ฝ๐ฎ๐ฐ๐. If these tests are wrong, patientsโ lives change, and oftentimes not for the betterโฆSome 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 werenโt necessary
What if this was your family member, friend or a patient you are treating or covering as a Health Insurance payer? Wouldnโt 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 ๐ฏ๐ถ-๐ฝ๐ฎ๐ฟ๐๐ถ๐๐ฎ๐ป ๐ฏ๐ถ๐น๐น 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 (๐ช๐ต๐ข๐ญ๐ช๐ค๐ด) 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.
โ๐๐ฏ ๐ข๐ฏ ๐ฆ๐ฎ๐ข๐ช๐ญ, ๐๐ต๐ฆ๐ฑ๐ฉ๐ฆ๐ฏ ๐๐ข๐ด๐ต๐ฆ๐ณ, ๐๐๐๐ ๐ฑ๐ณ๐ฆ๐ด๐ช๐ฅ๐ฆ๐ฏ๐ต [๐๐ฎ๐ฆ๐ณ๐ช๐ค๐ข๐ฏ ๐๐ด๐ด๐ฐ๐ค๐ช๐ข๐ต๐ช๐ฐ๐ฏ ๐ง๐ฐ๐ณ ๐๐ญ๐ช๐ฏ๐ช๐ค๐ข๐ญ ๐๐ฉ๐ฆ๐ฎ๐ช๐ด๐ต๐ณ๐บ], ๐ข๐ฏ๐ฅ ๐ค๐ฉ๐ช๐ฆ๐ง ๐ฐ๐ง ๐ต๐ฉ๐ฆ ๐ฅ๐ช๐ท๐ช๐ด๐ช๐ฐ๐ฏ ๐ฐ๐ง ๐ญ๐ข๐ฃ๐ฐ๐ณ๐ข๐ต๐ฐ๐ณ๐บ ๐ฎ๐ฆ๐ฅ๐ช๐ค๐ช๐ฏ๐ฆ ๐ข๐ต ๐๐ฉ๐ช๐ญ๐ฅ๐ณ๐ฆ๐ฏ’๐ด ๐๐ฐ๐ด๐ฑ๐ช๐ต๐ข๐ญ ๐ฐ๐ง ๐๐ฉ๐ช๐ญ๐ข๐ฅ๐ฆ๐ญ๐ฑ๐ฉ๐ช๐ข, ๐ฏ๐ฐ๐ต๐ฆ๐ฅ ๐ต๐ฉ๐ข๐ต ๐ธ๐ฉ๐ช๐ญ๐ฆ “๐๐๐๐ ๐ช๐ต๐ด๐ฆ๐ญ๐ง ๐ฅ๐ฐ๐ฆ๐ด ๐ฏ๐ฐ๐ต ๐ณ๐ฆ๐ฒ๐ถ๐ช๐ณ๐ฆ ๐ค๐ญ๐ช๐ฏ๐ช๐ค๐ข๐ญ ๐ญ๐ข๐ฃ๐ฐ๐ณ๐ข๐ต๐ฐ๐ณ๐ช๐ฆ๐ด ๐ต๐ฐ ๐ฆ๐ด๐ต๐ข๐ฃ๐ญ๐ช๐ด๐ฉ ๐ต๐ฉ๐ฆ ๐ค๐ญ๐ช๐ฏ๐ช๐ค๐ข๐ญ ๐ท๐ข๐ญ๐ช๐ฅ๐ช๐ต๐บ ๐ฐ๐ง ๐๐๐๐ด, ๐ต๐ฉ๐ฆ ๐๐ฐ๐ญ๐ญ๐ฆ๐จ๐ฆ ๐ฐ๐ง ๐๐ฎ๐ฆ๐ณ๐ช๐ค๐ข๐ฏ ๐๐ข๐ต๐ฉ๐ฐ๐ญ๐ฐ๐จ๐ช๐ด๐ต๐ด [๐๐๐] ๐ข๐ฏ๐ฅ ๐ต๐ฉ๐ฆ ๐๐ฐ๐ช๐ฏ๐ต ๐๐ฐ๐ฎ๐ฎ๐ช๐ด๐ด๐ช๐ฐ๐ฏ โ ๐ฃ๐ฐ๐ต๐ฉ ๐ฐ๐ง ๐ธ๐ฉ๐ช๐ค๐ฉ ๐ข๐ณ๐ฆ ๐ฅ๐ฆ๐ฆ๐ฎ๐ฆ๐ฅ ๐ข๐ค๐ค๐ณ๐ฆ๐ฅ๐ช๐ต๐ช๐ฏ๐จ ๐ฐ๐ณ๐จ๐ข๐ฏ๐ช๐ป๐ข๐ต๐ช๐ฐ๐ฏ๐ด ๐ถ๐ฏ๐ฅ๐ฆ๐ณ ๐๐๐๐ โ ๐ฅ๐ฐ ๐ณ๐ฆ๐ฒ๐ถ๐ช๐ณ๐ฆ ๐ต๐ฉ๐ข๐ต ๐ญ๐ข๐ฃ๐ด ๐ฅ๐ฐ๐ค๐ถ๐ฎ๐ฆ๐ฏ๐ต ๐ค๐ญ๐ช๐ฏ๐ช๐ค๐ข๐ญ ๐ท๐ข๐ญ๐ช๐ฅ๐ข๐ต๐ช๐ฐ๐ฏ ๐ฐ๐ง ๐๐๐๐ด.” https://www.360dx.com/policy-legislation/fda-control-ldts-looms-momentum-builds-valid-act#.YjJArWDMJD8
CGIโs response: It is true that CLIA does not require clinical validity. The remainder of ๐๐ฟ. ๐ ๐ฎ๐๐๐ฒ๐ฟโ๐ ๐ฐ๐ผ๐บ๐บ๐ฒ๐ป๐ ๐ต๐ผ๐๐ฒ๐๐ฒ๐ฟ ๐ถ๐ ๐ถ๐ป๐๐ฒ๐ป๐๐ถ๐ผ๐ป๐ฎ๐น๐น๐ ๐ผ๐ฏ๐ณ๐๐๐ฐ๐ฎ๐๐ถ๐ป๐ด. 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. CAPโs evidence of compliance requires only the following: โRecords 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, ๐บ๐ฎ๐ป๐ ๐น๐ฎ๐ฏ๐ผ๐ฟ๐ฎ๐๐ผ๐ฟ๐ถ๐ฒ๐ ๐ฑ๐ฒ๐ฝ๐น๐ผ๐ ๐ถ๐ป๐ฒ๐ณ๐ณ๐ฒ๐ฐ๐๐ถ๐๐ฒ ๐ผ๐ฟ ๐ถ๐ป๐ฐ๐ผ๐บ๐ฝ๐น๐ฒ๐๐ฒ ๐๐ฎ๐น๐ถ๐ฑ๐ฎ๐๐ถ๐ผ๐ป ๐๐๐๐ฑ๐ถ๐ฒ๐ ๐ณ๐ผ๐ฟ ๐๐ต๐ฒ๐ถ๐ฟ ๐๐ฒ๐๐๐, ๐๐ผ๐บ๐ฒ๐๐ถ๐บ๐ฒ๐ ๐ถ๐ป๐๐ฒ๐ป๐๐ถ๐ผ๐ป๐ฎ๐น๐น๐ ๐ฑ๐ฒ๐๐ถ๐ด๐ป๐ฒ๐ฑ ๐๐ผ ๐ต๐ถ๐ฑ๐ฒ ๐ณ๐น๐ฎ๐๐. 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. ๐ง๐ต๐ฒ๐๐ฒ ๐น๐ฎ๐ฏ๐ ๐ฎ๐ฟ๐ฒ ๐๐๐ถ๐น๐น ๐ถ๐ป ๐๐๐ฃ ๐ฐ๐ผ๐บ๐ฝ๐น๐ถ๐ฎ๐ป๐ฐ๐ฒ. This means that seemingly equivalent tests from different CAP labs can vary substantially in their actual clinical performance.
Should you believe Dr. Stephen Masterโs statement that CAP laboratory accreditation is sufficient to ensure clinical validity of tests coming out of that laboratory?
NO!
Donโt believe us? ๐๐ฒ๐ฟ๐ฒ ๐ฎ๐ฟ๐ฒ ๐ฎ๐ป๐ผ๐ป๐๐บ๐ผ๐๐ ๐๐๐ฎ๐๐ฒ๐บ๐ฒ๐ป๐๐ ๐ณ๐ฟ๐ผ๐บ ๐น๐ฎ๐ฏ๐ผ๐ฟ๐ฎ๐๐ผ๐ฟ๐ ๐ฑ๐ถ๐ฟ๐ฒ๐ฐ๐๐ผ๐ฟ๐, ๐ด๐ถ๐๐ฒ๐ป ๐๐ผ ๐๐ต๐ฒ ๐๐๐, ๐ฟ๐ฒ๐๐ฒ๐ฎ๐น๐ถ๐ป๐ด ๐๐ต๐ฎ๐ ๐บ๐ผ๐๐ ๐ฐ๐น๐ถ๐ป๐ถ๐ฐ๐ฎ๐น ๐ด๐ฒ๐ป๐ฒ๐๐ถ๐ฐ/๐ด๐ฒ๐ป๐ผ๐บ๐ถ๐ฐ ๐น๐ฎ๐ฏ๐ ๐ฝ๐น๐ฎ๐ ๐๐ต๐ฒ ๐๐๐๐๐ฒ๐บ ๐ถ๐ป ๐ผ๐ฟ๐ฑ๐ฒ๐ฟ ๐๐ผ ๐ต๐ถ๐ฑ๐ฒ ๐๐ต๐ฒ๐ถ๐ฟ ๐๐ฒ๐๐๐’ ๐ณ๐น๐ฎ๐๐ ๐๐ต๐ถ๐น๐ฒ ๐๐๐ถ๐น๐น ๐ฝ๐ฎ๐๐๐ถ๐ป๐ด ๐๐๐๐/๐๐๐ฃ ๐ฟ๐ฒ๐พ๐๐ถ๐ฟ๐ฒ๐ฑ ๐ฝ๐ฟ๐ผ๐ณ๐ถ๐ฐ๐ถ๐ฒ๐ป๐ฐ๐ ๐๐ฒ๐๐๐ถ๐ป๐ด (๐ฃ๐ง):
โEvery laboratory and laboratory director is scared of failing a PT, which means that laboratories want to pick the easy cases for PT.โ And โthere 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
๐๐ป๐ฑ ๐ต๐ฒ๐ฟ๐ฒโ๐ ๐ฎ๐ป ๐ฒ๐ ๐ฎ๐บ๐ฝ๐น๐ฒ ๐ณ๐ฟ๐ผ๐บ ๐๐ต๐ฒ ๐น๐ถ๐๐ฒ๐ฟ๐ฎ๐๐๐ฟ๐ฒ ๐ผ๐ณ ๐ณ๐ผ๐๐ฟ ๐๐ฒ๐๐๐ ๐ผ๐ณ๐ณ๐ฒ๐ฟ๐ฒ๐ฑ ๐ฏ๐ ๐๐๐ฃ ๐ฎ๐ฐ๐ฐ๐ฟ๐ฒ๐ฑ๐ถ๐๐ฒ๐ฑ ๐ถ๐ป๐๐๐ถ๐๐๐๐ถ๐ผ๐ป๐ ๐๐ถ๐๐ต ๐ต๐ถ๐ด๐ต๐น๐ ๐๐ฎ๐ฟ๐ถ๐ฎ๐ฏ๐น๐ฒ ๐๐ฒ๐๐ ๐ฝ๐ฒ๐ฟ๐ณ๐ผ๐ฟ๐บ๐ฎ๐ป๐ฐ๐ฒ๐ ๐ณ๐ผ๐ฟ ๐๐ฒ๐ฒ๐บ๐ถ๐ป๐ด๐น๐ ๐ถ๐ฑ๐ฒ๐ป๐๐ถ๐ฐ๐ฎ๐น ๐๐ฒ๐๐๐: โOur 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 Masterโs quotes from the 360Dx article: “๐๐ข๐ด๐ต๐ฆ๐ณ, ๐ด๐ฑ๐ฆ๐ข๐ฌ๐ช๐ฏ๐จ ๐ฐ๐ฏ ๐ฃ๐ฆ๐ฉ๐ข๐ญ๐ง ๐ฐ๐ง ๐๐๐๐, ๐ณ๐ข๐ช๐ด๐ฆ๐ฅ ๐ด๐ฆ๐ท๐ฆ๐ณ๐ข๐ญ ๐ฑ๐ณ๐ช๐ฎ๐ข๐ณ๐บ ๐ช๐ด๐ด๐ถ๐ฆ๐ด ๐ต๐ฉ๐ฆ ๐ฐ๐ณ๐จ๐ข๐ฏ๐ช๐ป๐ข๐ต๐ช๐ฐ๐ฏ ๐ฉ๐ข๐ด ๐ณ๐ฆ๐จ๐ข๐ณ๐ฅ๐ช๐ฏ๐จ ๐ต๐ฉ๐ฆ ๐๐๐๐๐ ๐๐ค๐ต, ๐ช๐ฏ๐ค๐ญ๐ถ๐ฅ๐ช๐ฏ๐จ ๐ต๐ฉ๐ฆ ๐ง๐ข๐ค๐ต ๐ต๐ฉ๐ข๐ต ๐ต๐ฉ๐ฆ ๐ญ๐ข๐ธ’๐ด ๐ฑ๐ณ๐ฐ๐ฑ๐ฐ๐ด๐ข๐ญ ๐ต๐ฐ ๐จ๐ณ๐ข๐ฏ๐ฅ๐ง๐ข๐ต๐ฉ๐ฆ๐ณ ๐ช๐ฏ ๐ฆ๐น๐ช๐ด๐ต๐ช๐ฏ๐จ ๐๐๐๐ด ๐ค๐ฐ๐ถ๐ญ๐ฅ ๐ฑ๐ณ๐ฆ๐ท๐ฆ๐ฏ๐ต ๐ญ๐ข๐ฃ๐ด ๐ง๐ณ๐ฐ๐ฎ ๐ฎ๐ข๐ฌ๐ช๐ฏ๐จ ๐ฏ๐ฆ๐ฆ๐ฅ๐ฆ๐ฅ ๐ถ๐ฑ๐ฅ๐ข๐ต๐ฆ๐ด ๐ต๐ฐ ๐ต๐ฉ๐ฐ๐ด๐ฆ ๐๐๐๐ด ๐ฅ๐ฐ๐ธ๐ฏ ๐ต๐ฉ๐ฆ ๐ณ๐ฐ๐ข๐ฅ ๐ช๐ง ๐ช๐ต ๐ธ๐ช๐ญ๐ญ ๐ณ๐ฆ๐ฒ๐ถ๐ช๐ณ๐ฆ ๐ต๐ข๐ฌ๐ช๐ฏ๐จ ๐ต๐ฉ๐ฆ๐ฎ ๐ต๐ฉ๐ณ๐ฐ๐ถ๐จ๐ฉ ๐ต๐ฉ๐ฆ ๐ฏ๐ฆ๐ธ ๐ณ๐ฆ๐จ๐ถ๐ญ๐ข๐ต๐ฐ๐ณ๐บ ๐ฑ๐ณ๐ฐ๐ค๐ฆ๐ด๐ด; ๐ต๐ฉ๐ฆ ๐ฑ๐ฐ๐ต๐ฆ๐ฏ๐ต๐ช๐ข๐ญ๐ญ๐บ ๐ฃ๐ถ๐ณ๐ฅ๐ฆ๐ฏ๐ด๐ฐ๐ฎ๐ฆ ๐ฏ๐ข๐ต๐ถ๐ณ๐ฆ ๐ฐ๐ง ๐ต๐ฉ๐ฆ ๐ข๐ฅ๐ท๐ฆ๐ณ๐ด๐ฆ ๐ฆ๐ท๐ฆ๐ฏ๐ต๐ด ๐ณ๐ฆ๐ฑ๐ฐ๐ณ๐ต๐ช๐ฏ๐จ ๐ด๐บ๐ด๐ต๐ฆ๐ฎ ๐ต๐ฉ๐ฆ ๐ญ๐ข๐ธ ๐ธ๐ช๐ญ๐ญ ๐ณ๐ฆ๐ฒ๐ถ๐ช๐ณ๐ฆ ๐ต๐ฆ๐ด๐ต ๐ฅ๐ฆ๐ท๐ฆ๐ญ๐ฐ๐ฑ๐ฆ๐ณ๐ด ๐ต๐ฐ ๐ฎ๐ข๐ช๐ฏ๐ต๐ข๐ช๐ฏ; ๐ข๐ฏ๐ฅ ๐ต๐ฉ๐ฆ ๐ค๐ฐ๐ฏ๐ค๐ฆ๐ณ๐ฏ ๐ต๐ฉ๐ข๐ต ๐ฏ๐ฆ๐ธ ๐ถ๐ด๐ฆ๐ณ๐ด ๐ง๐ฆ๐ฆ๐ด ๐ข๐ฑ๐ฑ๐ญ๐ช๐ฆ๐ฅ ๐ต๐ฐ ๐๐๐๐ด ๐ค๐ฐ๐ถ๐ญ๐ฅ ๐ฑ๐ณ๐ฆ๐ท๐ฆ๐ฏ๐ต ๐ฎ๐ข๐ฏ๐บ ๐ญ๐ข๐ฃ๐ด ๐ง๐ณ๐ฐ๐ฎ ๐ฅ๐ฆ๐ท๐ฆ๐ญ๐ฐ๐ฑ๐ช๐ฏ๐จ ๐ข๐ฏ๐ฅ ๐ฐ๐ง๐ง๐ฆ๐ณ๐ช๐ฏ๐จ ๐ต๐ฉ๐ฆ๐ด๐ฆ ๐ต๐ฆ๐ด๐ต๐ด.โ
CGIโs 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 itโs just โtoo 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.
CGIโs response: ๐ช๐ผ๐๐น๐ฑ ๐๐ต๐ฒ ๐ฟ๐ฒ๐พ๐๐ถ๐ฟ๐ฒ๐บ๐ฒ๐ป๐ ๐๐ผ ๐ฝ๐ฎ๐ ๐๐๐ ๐๐๐ฒ๐ฟ ๐ณ๐ฒ๐ฒ๐ ๐ณ๐ผ๐ฟ ๐ฎ ๐ด๐ฒ๐ป๐ฒ๐๐ถ๐ฐ/๐ด๐ฒ๐ป๐ผ๐บ๐ถ๐ฐ ๐๐ฒ๐๐ ๐ฟ๐ฒ๐ฎ๐น๐น๐ ๐ฏ๐ฒ ๐๐ผ๐ผ ๐ฒ๐ ๐ฝ๐ฒ๐ป๐๐ถ๐๐ฒ ๐ณ๐ผ๐ฟ ๐น๐ฎ๐ฏ๐? 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, hereโs 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
๐๐๐โ๐ ๐๐ถ๐ป๐ฎ๐น ๐ง๐ต๐ผ๐๐ด๐ต๐๐: 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 Centerโs 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.
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