In the 1990’s when BRCA1 and BRCA2 were found to be associated with an increased risk of developing breast cancer, getting patients tested for these genetic mutations was difficult.  The thought of widespread testing of patients represented a nearly insurmountable challenge for a multitude of reasons.  Since that time genetic testing has become much more streamlined and it has come much further than just testing for BRCA1/2.  Back in the 1990’s genetic testing had to be completed with a blood draw, today that same testing is performed on a saliva specimen, and it’s not just a test for BRCA1/2, testing for multiple hereditary cancers can now be performed on that same sample.  In addition, back in the 90’s a genetic counselor would have to go from laboratory to laboratory for different tests, coordinate results, and communicate results to the patient and physician.  Today providers and counselors can easily access genetic testing services as many laboratories offer complete genetic testing panels and results are straightforward and easy to understand.

Simplifying the process of genetic testing is just the beginning.  Education about the impact genetic testing can have on treatment paradigms and outcomes is in full force today, driven by peer reviewed research, cancer support groups, laboratory testing companies, ObGyn’s and women’s imaging centers.  Why offer genetic testing services at women’s imaging centers?  Because it makes sense to provide testing where many centers are already taking steps to determine which patients are at high risk of developing breast cancer.  The addition of genetic testing to those existing high-risk programs makes a lot of sense.  That said, determining who is at advanced risk of developing disease with a questionnaire is much different than collecting a liquid specimen and managing the logistics associated with genetic testing.

Historically women’s imaging centers are not designed to take saliva specimens or draw blood and submit the specimen to a laboratory for testing, so there are workflow questions.  Additionally, some amount of hesitancy exists due to uncertainty of reimbursement by payers and what if the center does not employ a genetic counselor for those patients that do qualify for testing?  This is where industry can step in and have a significant impact, facilitating not only identification of patients that qualify for testing but also overall workflow, management of test results, genetic counseling for patients and more.  Clearly cooperation between multiple stakeholders in industry and clinical practice is necessary.

Two such partnerships between women’s imaging and genetic testing companies exist between PenRad Technologies and Myriad Genetics, and PenRad Technologies and Natera Incorporated.  Each company is well known in their fields; PenRad for women’s imaging analytics and workflow optimization, Natera and Myriad for a full line of laboratory testing options in hereditary genetic testing.  Together the companies have developed well-designed patient management paradigms.  PenRad has implemented algorithms built on the standard practice of gathering patient history which now automatically flags patients eligible for genetic testing.  What is more, PenRad pre-populates Natera and Myriad Hereditary testing forms, and prints those forms for delivery along with the patient sample to the testing companies.  From the Natera and Myriad side of the partnership, not only do they provide the genetic testing services, but they also provide genetic counselors for patients.  These counselors provide an educational resource to patients, they provide information on insurance coverage and offset the cost of such counselors to the women’s imaging center.

Genetic testing is here to stay, and it is a relatively straightforward service to provide patients participating in breast cancer screening programs at women’s imaging centers.  Continued expansion of industry partnerships coupled with more thorough and accommodating reimbursement and continued education will lead to identification of more patients likely to develop breast cancer and numerous other cancers.  Now is the time to get started or expand genetic testing programs, especially in women’s imaging.

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For more information about genetic testing contact Natera (www.natera.com) or Myriad (www.myriad.com).  To learn more about how genetic testing can be streamlined in women’s imaging contact PenRad Technologies (www.penrad.com).


About the author.  Daniel D. Bickford (www.linkedin.com/in/daniel-bickford) is President of Pintail Strategic Consulting which has provided sales and marketing services to the diagnostic imaging industry since 2015, including PenRad.  Daniel was co-founder of Confirma Inc., the pioneer of breast MRI CAD technology and manufacturer or of CADstream.

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