Nastaran FoyouziREI/ Genetics, firstname.lastname@example.org
- United States of America
Thank you for your comment. With regards to your question about the presence of subset of patients in whom full gene sequencing as a first test would have the highest value ? I believe due to the lack of comprehensive genetic studies in CBAVD patients and therefore lacking a genotype phenotype relationship we do not know how to select these subgroup . Therefore, we need more data to be able to make the genotype- phenotype correlation.
About the cost benefit, I agree, there is a steep difference in cost between the carrier screening and whole CF gene sequencing however if the patient has a diagnosis of CABVD which is one of the CF phenotype, then CF testing become diagnostic not screening therefore, considered as a medical necessity by the insurance companies and they will cover the cost. For example Ambry genetics will do the whole CF NGS testing including sequencing the intron boundaries with addition of del/dup (test code 1007). The cost for non insured patients is $1000, however they have a financial assistance program that patient can apply and they will give a good discount to the patients, so almost always patient does not pay the $1000. They also do all of the insurance pre-authorization and dealing with the insurance companies. The only thing that you need to do is to send them the requisition and a letter of medical necessities, which they have a sample letter in their website to fill. I am sure there are other companies that may be do the same however in my research I found Ambry the most comprehensive and cost benefit between them.
FYI- I do not have any conflict of interest with Ambry, between couple companies that I have talked for our institution, I found Ambry the best fit for us, however I did not ask from all the companies but feel free to do your own research.
The concern for doing the screening first and if it was negative then go for the whole gene sequencing is : 1. Patient have to pay 2wice, one for screening and then for diagnostic test
2. The higher possibility that the insurance company decline the diagnostic test. They can argue if the patient had a CF phenotype why screening test have been sent and they always decline the more expensive test. Also it will be difficult to prove the medical necessity to the insurance companies at this point.
At the end, just wanted to point it out that the cost of having an offspring with CF is not even comparable with the cost of testing, so this should always be considered in counseling the patient.
I hope I could answer all of your questions and concerns, please fell free to contact if you have more questions or concerns.
Nastaran Foyouzi, MD