Obtaining a patient’s complete CFHx (cancer family history) is a key component of precision medicine. Incorporating hereditary cancer testing as standard of care into a practice may seem daunting; however, once in place, a treatment plan incorporating a patient’s hereditary predisposition to cancer can help prevent another cancer.

ASCO1 recommends that a practice implement a process to appropriately capture a patient’s Cancer Family History and this can be done in many ways.

  • Electronic

    Both the Family History Tool and Hereditary Cancer Quiz are easy to use and can help identify patients for hereditary cancer testing by evaluating CFHx.

  • Hard Copy

    A Hereditary Cancer Questionnaire captures a patient’s CFHx in one form and can be easily incorporated into all new patient paperwork. This helps information to be captured at the first visit and updated throughout treatment.

  • The survivorship patient population should be screened for hereditary cancer risk and asked about CFHx at the beginning of post-treatment survivorship.

Providers now recognize the importance of capturing cancer family history for patients as a predictor of quality and outcomes.

No matter how patients’ CFHx is captured in a practice, it is important for clinicians to review it with the patient to determine whether or not they meet criteria for a hereditary cancer test to further determine their risk.

The American Society of Clinical Oncology (ASCO) recommends clinical oncologists document a detailed cancer family history of first-and second-degree relatives. Gathering cancer family history should be an interactive process with an open discussion between a provider and patient about the possible outcomes and implications of results.1

“Genetic factors are a key component of precision medicine because they can unlock important information that can help an oncologist determine the best course of individualized treatment. An adequate family history is key to identifying those patients whose cancer may be associated with inherited genetic factors.”

Clifford A. Hudis, ASCO President, MD, FACP

A recent publication in the Journal of Clinical Oncology examined over 10,000 medical records of patients who had breast or colon cancer from 212 practices participating in the ASCO Quality Oncology Practice Initiative.3 The study concluded that low rates of complete Cancer Family Histories were obtained from the participating practices and additionally, less than half of the high risk patients were recommended for genetic testing. Specifically, out of 10, 466 charts evaluated, 20% were missing first-degree cancer family history information, 35% were missing cancer family history information for second-degree relatives, and almost 60% of charts were missing the documented age at diagnosis for relatives with cancer.

Missing Information in Medical Charts (n=10,466)

Missing Information in Medical Charts

Patients at Risk for Hereditary Cancer Missed Due to Incomplete Cancer Family History2

To further demonstrate the need for a change in the process for CFHx documentation, a poster presented at the 2014 ASCO Annual Meeting reviewed 499 family histories to determine eligibility for advanced breast or colon cancer screening as well as Hereditary Cancer Risk Assessment. Solomon et al. found that 62% and 67% of breast and colon cancer patients, respectively, would be missed due to an incomplete cancer family history.

Patients missed due to incomplete cancer family history

Consider the following case study:

A 51-year-old female presents with breast cancer. As indicated by her pedigree, we can see that her first-generation family history includes aggressive prostate cancer in her father who was diagnosed at 63. According to this information, this patient does not meet NCCN clinical criteria for hereditary cancer testing.

However, expanding this patient’s documented cancer family history to include second degree relatives, it was noted that her paternal grandfather was diagnosed with prostate cancer at age 79.

With this documented second-degree family history information, this patient meets NCCN clinical testing criteria based on this guideline: Personal history of breast cancer diagnosed at any age with ≥2 close blood relatives with pancreatic and/or prostate cancer at any age.4

Furthermore, if this patient is tested and found to carry a BRCA1 or BRCA2 mutation, there are potential management changes that can be made to reduce risk.

Cancer Family History
Consider the following when thinking about possible recommendation associated with this patient’s hereditary cancer risk and breast cancer diagnosis:
  • Discuss risk reducing mastectomy instead of lumpectomy as part of her treatment
  • Discuss a risk-reducing bilateral salpingo-oopherectomy (BSO).
  • If breast-conserving surgery is performed, chemoprevention would be recommended to reduce the risk of a second breast cancer.
  • In addition, increasing breast surveillance and including breast MRIs would be recommended

A comprehensive family history is the first step for patients that can unlock the answers for a patient’s hereditary pre-disposition to cancer. Screening all patients based on their personal and CFHx to determine whether or not they would benefit from further genetic testing may help mitigate the risk of a second primary cancer.


  1. Lu, Karen H. et al. “American Society of Clinical Oncology Expert Statement: Collection and Use of a Cancer Family History for Oncology Providers.” Journal of Clinical Oncology 32.8 (2014): www.jco.org.
  2. Solomon, Benjamin et al. Contribution of Extended Family History in Assessment of Risk for Breast and Colon Cancer. Journal of Clinical Oncology 32.5 (2014) Presented 2014 ASCO Annual Meeting (2014):1564
  3. American Society of Clinical Oncology. ASCO Issues New Recommendations for Family History Taking in Oncology Setting. American Society of Clinical Oncology. N.P., 3 Feb. 2014. Web. 10 Mar. 2014. .
  4. Wood, et al,. Quality of Cancer Family History and Referral for Genetic Counseling and Testing Among Oncology Practices: A Pilot Test of Quality Measures As Part of the American Society of Clinical Oncology Quality Oncology Practice Initiative. Journal of Clinical Oncology 32.8 (2014): 824-29.
  5. Daly M, et al. NCCN Clinical Practice Guidelines in Oncology (R): Genetic/Familial high-Risk Assessment: Breast and Ovarian. V 1.2014. February 28. Available at http://www.nccn.org

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