The Cigna Story
In 2013 the large national health plan, Cigna, implemented a policy requiring that patients consult with an independent (not employed by a testing laboratory) board certified genetic counselor prior to undergoing genetic testing for certain indications including inherited cancer susceptibility to breast, ovarian and colon cancer and an inherited cardiac condition, Long QT syndrome. The stated goals of Cigna’s policy:
- improve consumers’ understanding of genetic testing
- ensure appropriate test utilization
- help physicians to incorporate genetics into their practices
Cigna recognized that when these genetic tests are used appropriately, they can be enormously powerful tools that can result in more personalized and cost-effective care. However, given the high associated costs with such testing, there is incentive to ensuring that the testing is used appropriately.
While this policy was met with some resistance from medical groups who felt that this would be restrictive to the practices of non-genetic healthcare providers, over a year has past and Cigna is boasting that this unique program “helps the right people get the right test at the right time”.
There is a clear case to be made in the realm of cancer genetic testing to involve knowledgeable genetics professionals. Comprehensive genetic testing of cancer susceptibility genes can cost thousands of dollars, however once a mutation is identified in the family, an inexpensive targeted test becomes an option for other family members. Identifying the ideal person to begin the comprehensive testing makes good sense from an information standpoint for the family and genetic counselors are the best qualified to assess the family history and determine a plan for the family.
Genetic Counseling and Reproductive Testing
Prenatal genetic testing in the era of personalized genomic medicine is not a “one size fits all” proposition and will continue to present challenges and require research on optimal translation to clinical practice. Pre- and post-test genetic counseling, as well as access to genetics professionals, are optimal methods for conveying the risks and benefits of various testing strategies. Learning more about women’s values and preferences and providing educational tools for women to use in their clinicians’ offices, are essential for widespread implementation. Only through such efforts can the promise of personalized genomic medicine be fully realized during the prenatal period. – Susan Dolan. JAMA. Sept 2014
Genetic counselor can also help ensure the right people get the right testing the area of reproductive genetic testing. Historically, genetic counselors have only been involved in the care of patients who are determined have an increased risk to have a pregnancy with a genetic condition. This model may have made sense in prior decades when genetic testing options were only made available to a small minority of pregnant women. However, we are now in an era in which all women have the opportunity to consider genetic testing and are being asked to make complex decisions about what genetic information they want to know about their pregnancy. This increased complexity of information and decision making is coming at a time when obstetrical care providers have significant pressure to work efficiently and they are being asked to cover more and more information in a relatively short clinical encounter. An increasingly litigious culture also puts pressure on physicians “not to miss anything” in terms of a prenatal diagnosis for fear of a wrongful life suit. In fact, by subscribing to the belief that the newer, bigger tests being marketed by commercial laboratories are the best tests, physicians may in some cases may be inadvertently overlooking the more targeted test needed to determine a genetic risk for their specific patient.
Poorly informed use of testing does not result in optimal utilization of healthcare resources.
Studies have demonstrated that women are often not given the opportunity to make informed decisions regarding prenatal testing, but little has been done to correct the issues within the healthcare system to support optimal care that in turn facilitates patient autonomy. Historically there has not been much incentive to address this problem, in part because the cost of previously available tests was relatively small (e.g. traditional prenatal screening tests). With an influx of newer and more expensive genetic tests and growing pressure from industry to see these tests into broad use, the prenatal genetic testing market expected to soon become a multi-billion dollar market . There is more reason than ever before to ensure that genetic tests in pregnancy are being used appropriately.
Although all of the policy statements and practice guidelines regarding Noninvasive Prenatal Testing (NIPT) strongly recommend pretest educational and counseling, the percentage of women being given access to genetic counseling services seems to be dropping (2). Yet, this corresponds with a dramatic increase in uptake of NIPT.
Genetic testing such as NIPT and carrier screening for single gene disorders can be tremendously powerful and useful for women and couples who desire this information and would benefit from it. However there are scenarios in which patients may need more specific targeted tests due to their personal or family history of specific genetic conditions. Or they may desire a more definitive and comprehensive test such as could be accomplished through amniocentesis in which case, NIPT would not provide any additional beneficial information (3). There are also scenarios in which patients who are informed feel that they would not benefit from prenatal genetic testing at all and it is important that these individuals are given enough information to understand that they can decline prenatal genetic testing.
So, why should genetic counseling be an option for all pregnant women?
- Genetic Counseling is best for patients and it is best for optimal resource utilization.
- Genetic counselors have the expertise to know what tests are the right tests to be offered to an individual patient.
- Genetic Counselors also have the skills needed to help patients navigate the information and to make informed choices about testing options which also means more cost effective care: getting patients who want and would benefit from testing the right tests and ensuring those who do not want the testing and those that are unlikely to benefit are not pressured into undergoing tests that in their situation are unnecessary and undesired.
At the Genetic Support Foundation, we believe that we are at a turning point in prenatal healthcare. The rapidly expanding genetic testing options available to pregnant women present a critical opportunity for us to reevaluate: is the information about prenatal genetic testing being delivered in a way that achieves the goal of allowing patients to make informed choices? If not, it is to the disservice of patients, and is also likely resulting in an inappropriate over-utilization of genetic tests. We can do better when it comes to patient needs and healthcare costs.
Improved access to independent genetic counseling services is one important part of the solution to this growing and complex problem.
Should consultation with independent-board certified genetic counselors be available to all pregnant women?
In an ideal world, we believe the answer is yes. Not all patients will need or desire genetic counseling but for many such consultation can be of tremendous value.
With limited access to independent genetic counselors throughout the country how can this be achieved?
The Genetic Support Foundation will partner with you to develop solutions that can provide access to resources and counseling that will improve patient care while optimizing healthcare costs.
- Dolan SM. Personalized genomic medicine and prenatal genetic testing. 2014 Sep 24;312(12):1203-5.
- Williams J 3rd, Rad S, Beauchamp S, Ratousi D, Subramaniam V, Farivar S, Pisarska MD. Utilization of noninvasive prenatal testing: impact on referrals for diagnostic testing. Am J Obstet Gynecol. 2015 Apr 13. pii: S0002-9378(15)00357-9. doi: 10.1016/j.ajog.2015.04.005. [Epub ahead of print]
- Platt LD, Janicki MB, Prosen T, Goldberg JD, Adashek J, Figueroa R, Rodis J, Liao W, Sehnert AJ, Snyder HL, Warsof SL. Impact of noninvasive prenatal testing in regionally dispersed medical centers in the United States. Am J Obstet Gynecol. 2014 Oct;211(4):368.e1-7.
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