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Genetic testings have different significances and it seems that BRCA is currently the only gene of hard demand (CDx) in cancer treatments among germline testings.

Myriad and AstraZeneca

Back in Dec 2014, AstraZeneca received FDA approval for the first PARP inhibitor LYNPARZA, as monotherapy in patients with deleterious or suspected deleterious germline BRCA-mutated advanced ovarian cancer who have been treated with three or more prior lines of chemotherapy.

Concurrent with the approval of LYNPARZA, FDA has approved the BRACAnalysis CDx (Myriad Genetics) for the qualitative detection and classification of variants in the BRCA1 and BRCA2 genes.

Myriad is a pioneer in genetic testing, especially for BRCA. BRACAnalysis CDx is blood-based, using PCR and Sanger sequencing to gauge single nucleotide variants and small indels, and multiplex PCR to assess large deletions and duplications.

Foundation Medicine and Clovis Oncology

In Dec 2016, Foundation Medicine’s FoundationFocus CDxBRCA was approved by FDA as the first NGS-based companion diagnostic, for Clovis Oncology’s PARP inhibitor Rubraca (rucaparib), for patients with deleterious BRCA mutation (germline and/or somatic)-associated advanced ovarian cancer who have been treated with two or more chemotherapies.

Myriad and Clovis

In April 2017, Myriad and Clovis Oncology announced the CDx collaboration on Rubraca. “The companion diagnostic test approved with Rubraca does not discriminate between germline and somatic mutations. Knowledge of germline status is important to provide patients appropriate counseling.”

Myriad and Pfizer

In Oct 2018, the Myriad’s BRCA test was also approved as CDx for Pfizer’s PARP inhibitor Talzenna, for patients with HER2-negative metastatic breast cancer (mBC) who have a germline BRCA mutation.

Expanded PARP usage

In Jan 2018, AstraZeneca’s LYNPARZA received approval for expanded usage in breast cancer, for patients with germline breast cancer susceptibility gene (BRCA) mutated, HER2-negative metastatic breast cancer, who have been previously treated with chemotherapy. Patients with hormone receptor (HR)-positive breast cancer should have been treated with a prior hormonal (endocrine) therapy or be considered inappropriate for endocrine treatment.

FDA also expanded the approval of the BRACAnalysis CDx, an approved companion diagnostic to Lynparza, to include the detection of BRCA mutations in blood samples from patients with breast cancer.

In Dec 2019, Lynparza was approved in the US as a 1st-line maintenance treatment of germline BRCA-mutated metastatic pancreatic cancer, for patients whose disease has not progressed on at least 16 weeks of a 1st-line platinum-based chemotherapy regimen. Myriad’s CDx usage was also expanded.

While the market expanded, more players are coming to this field. Since 2013, there is a growing number of labs providing BRCA testings – mostly are not for CDx.

Prices are very different for example.

But overtime, the ASP is definitely coming down.

Meanwhile, FDA approved 23andMe’s DTC BRCA genetic testing in March 2018 (again, not for CDx) – testing for 3 BRCA1 or BRCA2 mutations to identify women at increased lifetime risk of breast cancer.