Continuation of TNXB and CAH-X genetic testing services from Prevention Genetics LLC (Notice of Intent to sole source)

This is a Notice of Intent, not a request for proposal.  The National Institute of Health, Clinical Center (NIH-CC) intends to negotiate on an other than full and open competition basis with Prevention Genetics LLC.

The National Institute of Health’s Clinical Center (Program) requires a specific type of genetic testing services with Prevention Genetics LLC.

The National Institute of Health’s Clinical Center has a Department of Pediatrics (Program) that needs to identify the genetic mutations causing congenital adrenal hyperplasia (CAH) and other congenital adrenal disorders. A primary goal of the Natural History Study of Patients with Excess Androgens, protocol #06-CH-0011, is to evaluate genetic causes of these conditions and evaluate genotype/phenotype. The results of the genetic findings are shared with patients and used to help direct patient care. Thus, Program needs to use a CLIA certified lab for genotyping. Prevention Genetics performs genetic analyses of CAH, other types of rare genetic causes of adrenal insufficiency, and importantly also analyzes a neighboring gene - TNXB. Program’s lab identified a contiguous gene deletion syndrome involving the most common CAH gene, CYP21A2, and the neighboring TNXB gene in 2013 and research of this genetic syndrome (named CAH-X) continues. It is essential to be able to genotype patients for TNXB as well as CAH in order to identify patients with CAH-X. Program also need to have access to a full panel of Ehlers-Danlos Syndrome (EDS) genes to exclude other genetic causes of patient symptomatology.

Prevention Genetics is the only commercial laboratory that does genetic testing for TNXB and identifies chimeric genes associated with CAH-X. They do full sequencing of both the CYP21A2 and TNXB genes, as well as 18 genes involved in EDS. Identifying these mutations is an important part of our ongoing clinical research.  It is also the only lab that offers the spectrum of genes the Department of Pediatrics is studying.

Furthermore, the NIH Clinical Center Pediatric Services has utilized Prevention Genetics for genetic testing for many years. Prevention Genetics has saved DNA on all of our samples and, when requested, have retrieved prior samples and completed additional genetic evaluation for research purposes free-of-charge. Changing to a different lab would be detrimental to the positive relationship between the Clinical Center Department of Pediatrics and Prevention Genetics and could potentially compromise the natural history protocol.  Using the same methodology for genetic testing is essential in clinical research studies.  Switching laboratories could necessitate other testing to be performed on historical data, which would increase the cost to the government and potentially impair clinical care and research.

Finally, because the NIH CC/Department of Pediatrics has used this vendor’s genetic data analysis to compile previous data, we need to use the same vendor in order to keep the methodology consistent to reduce variables and allow data comparison.  This is essential to producing high quality science and for publication of our findings.

Place of Performance or Delivery:

The period of performance is estimated to be around 7/05/2024 – 07/04/2025.

Place of Performance: NIH Clinical Center in Bethesda, MD

The statutory authority for this sole source requirement is 41 U.S.C. 1901 (a) (1) as implemented by FAR 13.106-1 only one responsible source and no other supply of service will satisfy agency requirements. THIS IS NOT A REQUEST FOR PROPOSAL.  All responsible sources that could provide the required may submit a capability statement that will be considered by email (subject line to reference NOI-CC-24-007233) by 4:00 pm eastern standard time on 07/05/2024 to: lu-chang.lu@nih.gov

All responses received by the closing date of this synopsis will be considered by the Government.  A determination not to compete this requirement, based upon responses to this notice, is solely within the discretion of the Government.