NEW YORK (GenomeWeb) – When patients seeking BRCA testing are counseled by certified genetic healthcare providers (GHP) they may be more likely to receive cheaper testing procedures, thereby avoiding expensive comprehensive sequencing tests, according to a new study.
The research, conducted by investigators at the Moffitt Cancer Center and published yesterday in Genetics in Medicine, found that patients seeking to find out their BRCA1 and BRCA2 status who met with GHPs, or genetic counselors and geneticists, also were more likely to recall having pre-test counseling that fit into nationally recommended guidelines.
"Our results suggest that genetic healthcare providers are less likely to order more expensive comprehensive genetic testing, when less expensive testing may be appropriate," lead study author Deborah Cragun, a post-doctoral fellow at Moffitt, said in a statement.
The Moffitt study included 473 patients who had genetic testing for BRCA1 and BRCA2 genetic mutations, which are associated with higher risk for hereditary breast and ovarian cancer.
Patients who want their BRCA status tested can opt for comprehensive sequencing and rearrangement testing, which runs between $3,000 and $4,000. But they may also choose single-site testing for cases when there is a known familial BRCA gene mutation, or multisite testing for the three mutations that are most common among the Ashkenazi Jewish (AJ) population, both of which are dramatically cheaper (less than $400), according to the study authors.
"Our study found that in cases where less expensive testing may be appropriate, genetic healthcare providers ordered comprehensive testing for 9.5 percent of participants, compared to 19.4 percent when tests were ordered by other healthcare providers," Cragun said.
The researchers said that involvement of a genetic healthcare provider "halved the likelihood that comprehensive BRCA testing was ordered among the 266 for whom single-site or multisite-3 testing may have been sufficient." (Multisite-3 is a reference to the three-mutations test common among the AJ population.)
The researchers also found that when GHPs were involved patients were more likely to be informed of and asked certain pretest questions that are recommended by the American Society of Clinical Oncology and the National Society of Genetic Counselors.
These included questions about patient pedigree and family history information, if they have any other hereditary cancer syndromes, whether the patient is aware that the tests may yield uncertain results, other impacts of genetic testing, their awareness of genetic discrimination laws, and whether or not they have been told about the possible repercussions of genetic testing on life and disability insurance.
The Moffitt study found that patients who received GHP counseling were more likely to recall having pretest sessions, and were more likely to recall discussing specific questions among those recommended by ASCO and NSGC. More than 40 percent of the patients who were tested by non GHPs did not recall having had a genetic counseling discussion before they took the test.
The authors did find that several providers who are not certified in genetics were providing adequate genetic counseling before their patients took the test. However, because these uncertified practitioners were not properly credentialed, it is difficult to distinguish them from the other providers who failed to provide adequate pretest counseling.