麻豆传媒

Genetic testing by oncology providers with referral to cancer genetic specialists, when appropriate, for patients with epithelial ovarian cancer (EOC) is feasible as an alternative care delivery model, researchers reported.

A shortage of genetic counselors can affect timely access to germline genetic testing for patients with EOC. The study by Phuong Mai, MD, of the University of Pittsburgh School of Medicine, and colleagues set out to investigate the current genetic testing practices of oncology providers to determine the feasibility of oncologist-led genetic testing for EOC patients.

In the following interview, Mai elaborated on the findings of the team's study, which was published in .

What does the study add to the literature?

Mai: Our study showed that the majority of gynecologic oncology providers who responded to the online survey regarding cancer genetic testing reported ordering cancer genetic testing for patients with EOC. However, this is a pilot study, with most respondents reported practicing in an academic center or hospital-based setting in urban or suburban areas. The findings might not be generalizable to the wider oncology provider population.

The results suggest that cancer genetic testing for patients with EOC by gynecologic oncology providers is becoming more mainstream. Most respondents did not identify any barriers to cancer genetic testing or referral; however, still about one third of the respondents indicated patient disinterest and concerns about insurance coverage as barriers to genetic testing and referral.

Long wait times for genetic counseling appointments was also cited as a barrier to referral. This finding supports exploring approaches to genetic testing other than the traditional pathway of referral to cancer genetics providers for counseling and testing.

The somewhat unexpected finding is the high reported rates of genetic testing, with 85% of respondents reporting they always ordered genetic testing for patients with EOC. This is quite high compared to the previously reported national testing rates of about 30%. However, these providers might be more inclined to complete the survey if they were more familiar with cancer genetic testing/services.

Why is it so important for women diagnosed with EOC to undergo genetic testing?

Mai: Genetic testing can have implications for cancer therapy as well as for future cancer risks. Finding a pathogenic variant in certain genes will lead to additional therapeutic considerations.

In addition to having implications for the patient, the test result also has implications for family members. If a patient is identified as having a pathogenic variant in a cancer predisposition gene, testing is recommended for all at-risk family members. Individuals found to have the same pathogenic variant can then have risk-appropriate management, such as intensive surveillance or risk-reducing intervention.

Certain cancer diagnoses have a higher likelihood of being related to an underlying hereditary cancer predisposition. Family history is also important in evaluating whether genetic testing should be considered.

Approximately 20% of patients with EOC have been identified to be associated with an underlying hereditary predisposition, regardless of age at diagnosis or family history. Thus, genetic counseling and testing is universally recommended for all patients with EOC. However, genetic testing could be a complex process, with consideration for additional, non-ovarian cancer predisposition genes, depending on family history.

Furthermore, securing insurance coverage for testing could be a complicated process. In the event that a pathogenic variant is identified, other genetic services can be provided, including an assessment for other cancer risks as well as testing of relatives.

What are the barriers to genetic testing and referrals?

Mai: Several barriers to genetic testing and referrals have been suggested, including both provider- and patient-related factors. Some of the provider-related factors include limited access to cancer genetic services, lack of knowledge about the indications for genetic services and the implications of genetic testing results, and limited evidence-based management guidelines for some of the cancer predispositions. Time constraint has also been cited by non-genetic providers as a barrier to incorporating genetic testing into their practices.

Some of the patient-related factors include financial burden, concerns about insurability, concerns about potential impacts for relatives, and uncertainty about genetic testing.

How should educational efforts be focused to improve provider confidence with genetic testing?

Mai: Limited knowledge in cancer genetic counseling/testing and cancer risk assessment, as well as the inability to keep abreast of the constantly changing cancer genetics landscape are some of the reported obstacles to genetic testing and referral. Therefore, educational efforts should focus on keeping knowledge current.

There are several resources available, such as consensus statements, management guidelines, and centralized online lists of testing labs and testing guidelines. Other considerations include webinars or lectures at society meetings to review updates.

What is the main message for practicing oncologists?

Mai: The identification of a genetic predisposition in patients with EOC is crucial to appropriately guide treatment and assess cancer risk for the patients and their family members. Genetic testing by oncology providers, with subsequent referrals to genetics services when appropriate, is a potentially feasible alternative approach that could help increase access to genetic testing.

Read the study here and expert commentary about the clinical implications here.