Chapter 1
Chapter 1
BACKGROUND:
Over the past few decades, genetic testing has come to play a larger role in clinical care by providing opportunities to establish a diagnosis more readily, which has implications for both the patient and their family. Currently, over one hundred thousand genetic tests exist in the US for genetic conditions; of these, more than three thousand tests have been newly introduced in twenty twenty-three. Despite the increasing medical importance of genetic tests, however, there are often issues obtaining insurance coverage. This is due to limited data and lack of professional guidelines for newly developed genetic tests to effectively inform coverage decisions on medical necessity. As a result, genetic testing is often considered "investigational" or "experimental" by insurance companies and may not be covered. Inadequate insurance coverage can therefore present access issues, since the cost for genetic tests can range up to several thousand dollars. The extent to which this amount is covered by insurance varies and depends on a patient's insurer and specific policy; in some cases, genetic testing may not be covered at all by certain insurance policies.
Given this wide variability and uncertainty, insurance coverage and out-of-pocket costs are major factors which impact decisions regarding genetic testing for patients. Consequently, financial discussions have played an increasingly significant role in genetic counseling sessions. Billing options, types of insurance accepted, and laboratory-offered services like prior authorization assistance also greatly influence the genetic testing laboratories that genetic counselors choose to work with. At the same time, insurance coverage, cost, and institutional contract restrictions can hinder genetic counselors' ability to order the ideal test for their patient. The influence of these financial factors on the type of genetic testing that can be offered to patients poses barriers to equitable access to care. For example, one study assessing patients who underwent germline testing for hereditary cancer conditions after being denied insurance coverage found that they had similar rates of carrying a pathogenic, likely pathogenic, or variant of uncertain significance result compared to patients who had their testing covered by insurance. In that respect, insurance policies may not meaningfully distinguish who can benefit from receiving genetic testing. These coverage disparities are especially prominent for individuals with government-sponsored insurance, like Medicaid, who are less likely to obtain coverage for a genetic test in the absence of separate billing policies created by the commercial laboratory to accommodate these plans.
One of the duties of genetic counselors is to seek out genetic testing options for patients, which includes vetting resources that are developed by labs in order to identify optimal tests at the lowest cost. One such resource that has become available over the past few years has been genetic testing offered through a sponsored program. In this case, biopharmaceutical companies initiate a partnership with commercial genetic testing laboratories to sponsor genetic testing programs at no cost for patients who meet pre-determined eligibility criteria based on their personal and family history. These tests are otherwise typically offered by the commercial laboratory through insurance or self-pay billing. In exchange for the no-cost testing, the third-party biopharmaceutical sponsor receives de-identified patient data from the commercial genetic testing laboratory which can be used for research and therapeutic development. Furthermore, these companies obtain indirect access to a pool of participants for future clinical trials. The data reported back to these companies can include information on patient symptoms, age of onset, family history, genetic results, and the contact information of the provider who ordered the test. Shared information varies widely across the different sponsored programs and labs and no explicit guidance is provided on how a patient's information will be shared or used.
Website review by Ms. Ramesh of four major commercial laboratories demonstrate that over forty sponsored programs are available that pertain to neurology, cardiology, urology, metabolic, immunology, ophthalmology, and skeletal conditions. However, the eligibility criteria and duration in which these programs are available are subject to change at the behest of either the biopharma company or the commercial laboratory. For instance, the sponsored Detect program, previously offered through Invitae Genetics Laboratory, had launched in twenty nineteen and provided patients with prostate or pancreatic cancer germline testing for hereditary cancer conditions; in a phone conversation with Invitae Client Services (August twenty twenty-three), they confirmed these programs were discontinued in early twenty twenty-three due to company restructuring.
Sponsored programs allow for genetic testing to be done in situations where it may otherwise not be accessible for patients, such as when insurance either denies or just partially covers the cost of testing, or when there is a limited ability to use patient-pay or financial assistance options. Removing the financial barrier for genetic testing services can therefore help facilitate access, and potentially make a genetic diagnosis possible for patients who otherwise cannot afford genetic testing. However, the fact that patients must consent to the testing lab's external sharing of their data with the biopharma company in order to have their testing covered places them in a potentially vulnerable position, especially when testing may be necessary to guide their health management. Patients, providers and institutions have concerns surrounding patient privacy and patient consent for data-sharing and data use, particularly since a non-clinical entity is involved. In one recent study assessing public opinion in the UK on data sharing of clinical information, it was revealed that while there was general support for sharing data to academia, health charities, or government health services, there was strong opposition for sharing information to other companies. Furthermore, patients may be at risk of receiving inadequate consent by a provider if they are not fully informed of a laboratory's relationship with a biopharma company and the anticipated use of their data provided through these sponsored test programs. Informed consent documents for these sponsored test programs vary from website review, with some labs not having a consent form specifically for testing through a sponsored program. The number of genes included or the testing methodology for these sponsored panels may also not be fully concordant with traditional clinical testing that would otherwise be offered.
Taken together, it is currently unclear how genetic counselors initially learn about these programs and weigh these risk-benefit considerations on an individual and institutional level for clinical care. Research on sponsored genetic testing is currently limited, with recent publications on the subject primarily focusing on the yield of genetic diagnosis among participants in these programs. However, little data is available on the factors that contribute to the integration of these programs in clinical practice. For cases where it is being used, how this option is introduced to patients when discussing genetic testing has not yet been explored.
STATEMENT OF THE RESEARCH PROBLEM:
STATEMENT OF THE RESEARCH PROBLEM:
OBJECTIVE: To investigate genetic counselors' inclusion of sponsored programs as an option for patients considering clinical genetic testing.