HARTFORD, Conn.--(BUSINESS WIRE)--The cost of genetic screening for cancer risk in women could fall to as low as $200 when performed as part of routine HPV Pap smear testing for the prevention of cervical cancer. This is the conclusion reached by Dr Sin Hang Lee, a pathologist in Milford, Connecticut and his co-authors in their recently released paper published in an international medical sciences journal.
The paper, entitled “Sanger Sequencing for BRCA1 c.68_69del, BRCA1 c.5266dup and BRCA2 c.5946del Mutation Screen on Pap Smear Cytology Samples” was published in the February issue of the International Journal of Molecular Sciences (hyperlink to paper http://www.mdpi.com/1422-0067/17/2/229).
The method developed by Dr Sin Hang Lee and his co-authors in Shanghai is the gold standard Sanger sequencing screen for the three BRCA1/2 founder mutations in the Pap smear sample collected by the gynecologist. The authors wrote:
“By simplifying the front end procedures for template preparation, the cost for screening these three founder mutations can be reduced to about US $200 per test when performed in conjunction with human papillomavirus (HPV) assays now routinely ordered for cervical cancer prevention. With this projected price structure, selective patients in a high-risk population can be tested and each provided with a set of DNA sequencing electropherograms to document the absence or presence of these founder mutations in her genome to help assess inherited susceptibility to breast and ovarian cancer in this era of precision molecular personalized medicine.
“Since every laboratory report would be accompanied by three DNA sequencing electropherograms as physical evidence to document the presence of a wild-type sequence or a sequence with mutation in each of these three target gene segments, interpretation of the test results is also simplified.” (Example: image for BRCA1 c.5266dup mutation compared with the normal wild-type sequence in small inset)
Dr Lee said the three BRCA founder mutations are common in individuals with Ashkenazi Jewish ancestry, but are less than 1% in the general population. However, when positive, BRCA1/2 mutation carriers have an estimated 56–84% lifetime risk of breast cancer; and for ovarian cancer, BRCA1 is associated with a 36–63% lifetime risk as opposed to 10–27% for BRCA2 carriers. In general, only 5 to 10% of breast cancers are inherited and up to 14% of ovarian cancers are thought to be hereditary. Since cancer risk is a complex health care issue, all women should consult their gynecologists or other qualified health care providers to optimize the health care that current science and technologies can provide, he advised.
Dr Lee is the director of Milford Molecular Diagnostics Laboratory (MMDL) specialized in developing DNA sequencing-based diagnostic tests for community hospital laboratories. MMDL is in the process of applying for a CLIA permit to offer BRCA1/2 Sanger sequencing tests on Pap smear cytology specimens. Parties interested in collaboration may contact Kevin Moore.