The multifactorial and heterogeneous nature of cancer makes it challenging to develop treatment plans that meet the unique needs of every patient. A genetics-informed, personalized care plan empowers patient-specific risk management and potential treatment decisions designed to enable better experiences and outcomes.
Research found that approximately 1 in 8 patients with a variety of solid tumor cancers have a pathogenic germline variant.1 Among the 1.9 million new cancer cases diagnosed annually, potentially as many as 247,000 of those individuals have inherited mutations, which could impact disease development and progression or treatment response.2
The evolution of clinical practice guidelines
Over time, practice guideline recommendations across cancer types have become more inclusive to improve access to information and other invaluable insights.3-5 However, family history criteria are still commonly used to determine eligibility. This basis may contribute to a disparity between patients who could benefit from germline testing and those who actually receive it.
In fact, family history alone misses as many as 48% of cancer patients with germline variants.1 This may be because patients simply do not know this information or inherited mutations were not identified in prior generations. Therefore, a family history-based approach may lead to unknown risk or limited access to potentially clinically relevant insights.
The growing demand and evidence for germline testing
As access to genetic testing improves and results become more clinically actionable, there has been a corresponding rise in awareness and interest among patients and providers. Additionally, recent studies across clinical settings have shown that germline testing can potentially support:
- Comprehensive personal and familial risk stratification6,7
- Timely, accurate diagnosis8
- Therapeutic decisions1
When patients are armed with this information, they can partner with their providers to develop a care plan that meets their specific needs throughout their cancer journey.
Hereditary factors in risk stratification
Insights into germline mutations can empower more informed pre-cancer risk management and personalized preventative care plans, which may include:
- Increased surveillance
- Risk-reducing surgery
- Clinical trial eligibility
- Education and counseling9
Uncovering inherited pathogenic variants in at-risk patients, or those patients who already have cancer, can also streamline familial risk evaluation via cascade family variant testing. This enables more proactive screening and preventative care planning for family members. Certain genetic testing companies offer no-cost family variant testing to reduce potential barriers and support quality care for all.
Germline variant insights offer potential therapeutic guidance
Research tells us that 1 in 3 cancer patients with a hereditary genetic variant could benefit from tailored treatments.1 Furthermore, a paired tumor and germline testing approach maximizes the yield of actionable findings that can inform patient-specific treatment, testing, and overall care decisions.10
Germline testing thus facilitates personalized care by helping providers assess individual needs and identify the possible targeted treatments or clinical trial opportunities for patients, regardless of cancer type.
Closing the testing gap
There are several contributing factors that have held germline testing back from the widespread adoption it merits, including:
- Perception around high cost, and historically limited coverage
- Limited eligibility criteria has hindered access
- Limited incorporation of genetics into education and clinical training
- Challenges in reporting have impeded interpretation
Here are some of the steps that can be taken to address each issue:
Expanding Financial Access
Financial accessibility is a two-pronged issue, which involves lowering costs and challenging the perception of high costs. Today most payers cover germline testing, reducing out-of-pocket expenses and minimizing billing issues. Invitae offers a $250 cash pay option to help lower patient costs regardless of coverage. The next step is informing providers, who may not know all of the resources available to patients, to continue to counteract the barriers to genetic testing.
Implementing a Universal Testing Approach
Relying on family history to determine whether germline testing may be appropriate for patients can further restrict access to clinically significant insights. Invitae’s comprehensive suite of hereditary cancer panels and test selection resources enables providers to easily identify the most appropriate test for their patients so they can quickly obtain the information they need and deliver the best care possible.
Enhancing Genetics Literacy
In order to make good use of germline testing, patients and providers need to understand it. That’s why Invitae has developed an expansive suite of educational and support tools, including genetic counseling and chatbot services for patients and genome management resources for providers. Improved genetics education goes hand-in-hand with adoption, as it enables providers to advocate for changes to improve the patient experience.
Improving the Utility of Germline Reporting
Invitae works closely with providers to understand their needs, developing a robust feedback loop to make genetic testing easier to access and understand. Automated reporting seamlessly integrates test results into care workflows. Intuitive clinical reports and interpretation tools support the decision-making process by highlighting actionable biomarkers, and recommending optimal next steps.
There are more reasons than ever to adopt germline genetic testing as a frontline approach to cancer care. Invitae is a leading medical genetics company used by over two million patients and providers. Join the growing movement that is using genetic information to empower personalized care for every patient.
- Samadder NJ, Riegert-Johnson D, Boardman L, et al. Comparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome. JAMA Oncol. 2021;7(2):230-237. doi:10.1001/jamaoncol.2020.6252
- Cancer Facts & Figures 2021 | American Cancer Society. Accessed April 14, 2022. https://www.cancer.org/research/cancer-facts-statistics/all-cancer-facts-figures/cancer-facts-figures-2021.html
- NCCN Guidelines Colon Cancer V.1.2022. NCCN. February 25, 2022. https://www.nccn.org/guidelines/guidelines-detail?category=1&id=1459.
- NCCN Guidelines Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic V.2.2022. NCCN. March 9, 2022. https://www.nccn.org/guidelines/guidelines-detail?category=2&id=1503.
- American College of Obstetricians and Gynecologists. Breast cancer risk assessment and screening in average-risk women. Obstet Gynecol. 2017(179);130(1):e1-e16. (Reaffirmed in 2021).
- Carwana H, Hoodfar E, Bergoffen J, Li D. Efficacy of paired tumor and germline testing in evaluation of patients with Lynch-like syndrome in a large integrated healthcare setting. Fam Cancer. 2021;20(3):223-230. doi:10.1007/s10689-020-00218-w
- Stoll J, Kupfer SS. Risk Assessment and Genetic Testing for Inherited Gastrointestinal Syndromes. Gastroenterol Hepatol. 2019;15(9):462-470.
- Mandelker D, Ceyhan-Birsoy O. The evolving significance of tumor-normal sequencing in cancer care. Trends Cancer. 2020;6(1):31-39. doi:10.1016/j.trecan.2019.11.006
- Horton C, Blanco K, Lo MT, et al. Clinician-Reported Impact of Germline Multigene Panel Testing on Cancer Risk Management Recommendations. JNCI Cancer Spectr. 2022;6(2):pkac002. doi:10.1093/jncics/pkac002
- Lincoln SE, Nussbaum RL, Kurian AW, et al. Yield and Utility of Germline Testing Following Tumor Sequencing in Patients With Cancer. JAMA Netw Open. 2020;3(10):e2019452. doi:10.1001/jamanetworkopen.2020.19452