麻豆传媒

Patients with epithelial ovarian cancer (EOC) have a high frequency of germline pathogenic variants and as such, current National Comprehensive Cancer Network guidelines recommend that all patients with EOC be offered germline genetic testing.

Despite this recommendation, only about 35% of women with EOC have undergone genetic testing. The lack of testing leads to underdiagnosis of germline pathogenic variants, which negatively impacts prognosis and treatment options. Additionally, if patients are unaware that they carry a pathogenic variant, they are unable to modify their risks of other cancers and unable to prompt cascade testing in potentially affected family members.

There are many barriers that can account for this discrepancy between genetic testing eligibility and accessibility, including but not limited to a lack of genetics services, insurance coverage, and/or discrimination concerns, burdens of additional appointments, and confusion about the benefit of genetic testing.

One of the main reasons such a small proportion of patients receive genetic testing is because there is a clear need for more genetics health professionals. Many patients either don't have access to a genetic health professional or have a long wait before they can get an appointment and get testing. As such, oncologist-led testing approaches are sometimes utilized but they have not yet been adopted as standard of care.

In a study in , Czekalski et al. aimed to evaluate the current genetic testing practices of oncology providers for patients with EOC in an effort to identify current barriers to genetic testing. A survey was sent out to members of the Society of Gynecologic Oncology who were currently or had recently been in clinical practice. The survey assessed genetic testing practices and barriers to ordering genetic testing and to making referrals to cancer genetics.

Providers were also assessed about their education and training in genetics and their confidence in taking comprehensive family history, ordering genetic testing, interpreting results, counseling a patient, and referring to cancer genetics services.

A total of 170 survey responses were used for the analysis. It is important to note that 81.8% of respondents were gynecologic oncologists and 95.3% worked primarily in gynecology/obstetrics or gynecologic oncology. The results showed that 85.3% of survey participants always ordered genetic testing for patients with EOC and approximately 60% of them referred the patients for cancer genetics services. Only 2.3% of respondents never ordered genetic testing; 53.6% of the respondents felt that none of the potential barriers that were included in the survey prevented them from ordering genetic testing.

For those who identified potential barriers, two of the most common were patient disinterest and insurance coverage concerns. Another barrier was long wait times for genetic counseling appointments.

The results of this study differ from prior data showing that slightly over a third of eligible patients are actually receiving genetic testing. In part, this could be due to the fact that the latter data is now several years old and may not reflect current practice standards and that nowadays, there is increasing availability of genetic testing. Furthermore, there may be participant bias and this population of providers may not be representative of the overall provider population.

Ultimately, this study contributes to the growing body of evidence that oncologist-led genetic testing for patients is an option and a potentially feasible pathway to improve access to genetic testing services and improve testing rates for patients with EOC, especially, as there is a known shortage of cancer genetics providers to meet patient needs.

However, before oncologist-led genetic testing can become a standard approach in this patient population, we must improve education in both providers and patients. Responders who stated that they always ordered genetic testing also felt more comfortable ordering genetic testing, interpreting all results, and counseling a patient on the meaning of the results compared with those who often/sometimes or never ordered genetic testing.

In order to increase oncologist-led testing, we must provide education to providers so that they feel more confident in these areas. Patient disinterest is a common barrier for genetic testing, and patient education on the importance and impact of genetic testing is critical.

In addition to gynecologic oncologists, medical oncologists are also increasingly becoming involved in the systemic treatment of ovarian cancer, and there needs to be a better understanding of how medical oncologists approach genetic testing. We must also be mindful of the time commitment that genetic testing, result interpretation, and counseling entails in the current practice landscape.

In summary, we are not quite ready for prime time. More work is needed to truly understand whether oncologist-led genetic testing will become an achievable approach in all practice environments.

Eleonora Teplinsky, MD, is Head of Breast Medical Oncology at Valley Health System in Paramus, New Jersey, and Clinical Assistant Professor at Icahn School of Medicine at Mount Sinai.

Read the study here and an interview about it here.