Genetic Screening for Women’s Cancer Risk May Be Reduced to $200 If Tested with Pap Smear

Noted American pathologist Sin Hang Lee, MD, of Milford Medical
Diagnostic Laboratory, publishes method in international medical science

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

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.


For Milford Medical Diagnostic Laboratory:
Kevin Moore, 203-788-8497