Germline genetic testing, also known as hereditary cancer testing, can reveal inherited risks for certain cancers long before symptoms appear. For many patients, this knowledge opens the door to proactive screening and early detection, when cancers may be easier to treat. By routinely assessing which patients may be at increased hereditary risk, healthcare providers can identify individuals who may benefit from earlier, more frequent, or advanced cancer screening. Risk-reducing options may also be available.
In my recent interview with Danielle Rogers, a genetics nurse practitioner in Florida, she detailed the story of a patient who was found to have early-stage thyroid cancer after being flagged by The Ambry CARE Program® (CARE) as meeting national guideline criteria for genetic testing. She was subsequently found to have a pathogenic RET variant, which began her personalized screening journey.
Patient Case
In her clinic, Danielle counseled a 58-year-old female who initially presented to breast imaging for a diagnostic mammogram following previous abnormal screening findings. This patient reported a family history significant for breast cancer, and she was understandably concerned about potential increased risk for developing breast cancer.
Because her mammogram appointment took place at an HCA facility that implemented CARE, comprehensive medical and family history information was collected digitally ahead of her appointment. CARE flagged her as qualifying for germline genetic testing, which her imaging clinic team could see at the time of her appointment.
The patient was interested in having genetic testing to better understand her own cancer risks, and she was able to complete point-of-care testing that same day. Based on education provided via CARE, the patient was aware that genetic testing in the form of a multigene panel could potentially identify risks for other types of cancer, not just breast cancer.
RET+ Results: Impact on the Patient and Her Family
In this case, the patient was found to have a genetic variant not associated with increased breast cancer risks as she was initially concerned about. Instead, the patient was found to have a pathogenic variant in the RET gene, which increases a person’s risk for developing medullary thyroid cancer.1 The patient had no known family history of thyroid or other associated cancers. She also had no concerning symptoms. However, given the positive genetic test result, Danielle referred the patient to endocrinology for biochemical testing.
The results of her biochemical testing were suspicious for possible medullary thyroid cancer. This diagnosis was later confirmed. This form of thyroid cancer can be aggressive, but her cancer was detected at an early stage with no evidence of metastasis. The patient underwent complete thyroidectomy with lymph node dissection. Adjuvant or additional therapy was not needed given the early stage.
Danielle noted that the patient credited CARE for enabling her to access genetic testing and ultimately personalized care. Had she not had genetic testing and biochemical screening, she likely would have been diagnosed with cancer at a more advanced stage.
The story doesn’t end there. Given the hereditary risks, the patient contacted her adult children and her siblings to let them know that they could also be at risk. Many of these family members were found to also harbor the pathogenic RET variant. These family members were now able to make proactive decisions about screening and management, with some electing to do screening and many electing to pursue prophylactic thyroidectomy.
In this particular case, CARE played a pivotal role in identifying this patient as a candidate for point-of-care testing that in turn informed personalized cancer risks that would not have been realized by the family history alone. Patients with medullary thyroid cancer are often diagnosed at advanced stages, and that decreases the likelihood of achieving a cure and increases mortality. Because this patient was navigated through CARE, she and her family were able to take advantage of life-saving measures.
Addressing a Common Concern: What If a Genetic Test Reveals Something Unexpected?
While hugely impactful for this patient and her family, this case could raise questions around incidental findings. Some providers may not feel comfortable counseling patients about incidental findings and may not have access to local genetic counseling services.
I think clinicians recognize there is a shortage of genetics professionals to counsel these patients, and it’s not going to go away. Through CARE, patients have access to telehealth genetic counseling at no cost…and the genetic counselors not only advise patients but give that correspondence back to these providers guiding them on the appropriate medical management.
This dual support ensures that both patients and clinicians have what they need to move forward confidently. And healthcare systems can implement high-risk patient identification programs that include comprehensive point-of-care testing, knowing that resources are in place to responsibly offer these services.
Why Offering Comprehensive Testing Matters — Even When Results May Be Unexpected
According to the American Society of Clinical Oncology (ASCO)2, genes associated with cancers not reflected in the family history should still be considered. This is because identifying an incidental positive finding could still be impactful in personalizing patient care, which is demonstrated in this case.
It’s better to offer patients the opportunity to have comprehensive multigene panel testing and let them decide, rather than taking that opportunity away from them, especially when necessary resources, such as genetic counseling services at no cost to patients, are available.
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References
1. Eng C, Plitt G. Multiple Endocrine Neoplasia Type 2. 1999 Sep 27 [Updated 2023 Aug 10]. In: Adam MP, Bick S, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1257/
2. Tung N, Ricker C, Messersmith H, et al. Selection of Germline Genetic Testing Panels in Patients With Cancer: ASCO Guideline. J Clin Oncol. 2024;42(21):2599-2615. doi:10.1200/JCO.24.00662
