New recommendations published in the American Society of Clinical Oncology (ASCO)’s Journal of Clinical Oncology now suggest that when oncologists see a new patient, they emphasize careful documentation of first- and second-degree cancer family history. These guidelines are the first to focus on family history taking specifically in oncology to help determine patients’ personal genetic risk for cancer. The aim is to help cancer doctors more effectively identify patients with a predisposition to hereditary cancer, and determine individualized short- and long-term management and treatment strategies based on their specific genetic status.
ASCO notes that approximately 5 to 10 percent of newly diagnosed cancers are genetically inherited, and has developed a broad set of initiatives designed to improve quality of preventive and therapeutic care for cancer patients and their families at hereditary risk for cancer.
ASCO says in a release that the organization worked to establish new recommendations that meet the goals of accurate and informative medical history-taking without imposing an unnecessary level of detail on the patient and the clinician. Its goals are to develop an oncology workforce capable of identifying and caring for persons at increased genetic risk of cancer, and to advance and expand access to care provided to patients and families affected by hereditary cancer syndromes
These initiatives in cancer genetics began more than a decade ago and have resulted in important educational offerings and policy recommendations to improve the quality of both preventive and therapeutic oncologic care for cancer patients and their families at hereditary risk for cancer. With expected increased protection of genetic privacy and decreasing costs of molecular genetic testing technologies, and the emergence of low penetrance and pharmacogenetic risk markers, the increasing demand for cancer genetic services will require continued ASCO initiatives in this area.
The current standard in medical genetics, genetic counseling and research settings is a comprehensive recording of three generations. However, after reviewing the available evidence, ASCO concluded that reported family history is most accurate in close relatives and loses accuracy in more distant relatives. On the basis of this data, a history of cancer in first- and second-degree relatives is often sufficient to assess a patient’s empiric risk of common cancers or a patient’s risk of a second primary cancer.
A new paper published online before print on February 3 by ASCO with the cumbersome title: “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,” (doi: 10.1200/JCO.2013.51.4661 JCO February 3, 2014 JCO.2013.51.4661) is co-authored by principal investigator Karen H. Lu Professor and Vice Chair of Prevention and Biomarker Research in the Department of Gynecologic Oncology and Reproductive Medicine at the University of Texas M.D. Anderson Cancer Center at Houston, with Marie E. Wood of the University of Vermont at Burlington; Pamela Kadlubek, Trang H. Pham, and Dana S. Wollins of the American Society of Clinical Oncology at Alexandria, VA; Jeffrey N. Weitzel of City of Hope hospital in Duarte, CA; Michael N. Neuss of the Vanderbilt- Ingram Cancer Center in Nashville, TN; and Kevin S. Hughes, Avon Comprehensive Breast Evaluation Center at Mass General Hospital in Boston, MA. Their research focus is on how a family history of cancer (CFH) is important for identifying individuals to receive genetic counseling/testing (GC/GT), with prior studies having demonstrated low rates of family history documentation and referral for GC/GT. CFH quality and GC/GT practices for patients with breast (BC) or colon cancer (CRC) were assessed in 271 practices participating in the American Society of Clinical Oncology Quality Oncology Practice Initiative in fall 2011.
A total of 212 practices completed measures regarding CFH and GC/GT practices for 10,466 patients were reviewed; 77.4% of all medical records reviewed documented presence or absence of CFH in first-degree relatives, and 61.5% of medical records documented presence or absence of CFH in second-degree relatives, with significantly higher documentation for patients with BC compared with CRC. Age at diagnosis was documented for all relatives with cancer in 30.7% of medical records (BC, 45.2%; CRC, 35.4%; P ≤ .001). Referral for GC/GT occurred in 22.1% of all patients with BC or CRC. Of patients with increased risk for hereditary cancer, 52.2% of patients with BC and 26.4% of those with CRC were referred for GC/GT. When genetic testing was performed, consent was documented 77.7% of the time, and discussion of results was documented 78.8% of the time.
The co-authors identified low rates of complete CFH documentation and low rates of referral for those with BC or CRC meeting guidelines for referral among US oncologists. Documentation and referral were greater for patients with BC compared with CRC. Education and support regarding the importance of accurate CFH and the benefits of proactive high-risk patient management are clearly needed.
The ASCO release notes that taking a focused family history, in combination with the patient’s personal history of cancer, allows the oncology provider to determine whether the patient may have a cancer that is driven by inherited genes and therefore would benefit from additional genetic counseling and testing. Ultimately, this information can be used to personalize treatment decisions as well as survivorship plans, including appropriate surveillance and prevention for patients’ increased risk of second cancers. For example, in the short term, BRCA1/BRCA2-positive genetic test results can affect surgical decisions and may have an impact on treatment options.
“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,” says ASCO President Clifford A. Hudis, MD, FACP , who is also Chief of Breast Cancer Medicine Service at Memorial Sloan Kettering hospital in New York, in a statement. “An adequate family history is key to identifying those patients whose cancer may be associated with inherited genetic factors.”
For patients with cancer, ASCO recommends obtaining, at a minimum whether there is any history of cancer in first- and second-degree relatives. First-degree relatives include parents, children and full siblings. Second-degree relatives include grandparents, aunts/uncles, nieces/nephews, grandchildren, and half-siblings. For each relative with cancer, ASCO recommends recording age at diagnosis and type of primary cancer(s), type of primary cancer(s), age at diagnosis, lineage (maternal and/or paternal), ethnicity, and results of any cancer genetic testing in any relative.
The guidelines say patients should be asked specifically if there is a known hereditary cancer predisposition syndrome, prior genetic testing, and for any information regarding ethnicity that maybe relevant, since a lower threshold for testing could be warranted in some situations. ASCO further recommends that the family history be recorded at a patient’s initial visit to the oncology provider, and be reassessed if new information about family members diagnosed with cancer becomes available.
“Ongoing hereditary risk assessment is part of high-quality oncology care,” Dr. Hudis says. “These recommendations provide clarity, guidance and support for the oncology professional and other specialists regarding what information to collect for a cancer family history and how to interpret it.”
A separate analysis of data from ASCO’s Quality Oncology Practice Initiative (QOPI) was also published in the Journal of Clinical Oncology. QOPI is an oncologist-led, practice based quality assessment and improvement program with the goal of promoting excellence in cancer care. As a preliminary measure, the current QOPI report indicates that of breast and colorectal patients with a first degree family history of cancer, 79.8 percent were documented in their chart and for those with a second degree family history of cancer, 64.6 percent were documented. These results document a greater opportunity for oncologists to maximize the potential of family history taking, and set a baseline for further quality improvement efforts.
While oncologists regularly participate in the collection of cancer family histories, some barriers may remain. Certain obstacles, such as a patient’s limited knowledge of his or her family medical history, may hinder the accuracy and therefore utility of our interpretation of genetic risk. ASCO recommends increasing patient education and awareness on the importance of a family history and the significance of a cancer risk assessment for patients and their family. ASCO’s patient website, Cancer.Net, will offer an article and infographic, as well as a cancer family history questionnaire patients can download. For more information, visit:
ASCO also notes that the increasing use of electronic health records (EHRs) can help providers overcome challenges to adopting these new recommendations. Devoting a portion of the EHR to family history taking could allow clinicians to seamlessly integrate the collection, assessment, and interpretation of family history into standard patient care. ASCO is also concerned that many insurers do not adequately reimburse for the time required to take a full cancer family history.
“An increase in reimbursement for this service would help providers – many of whom are already time-challenged by the current fee-for-service reimbursement structure – devote the additional time needed to perform this important component of high-quality cancer care,” says Dr. Hudis.
ASCO will be providing a comprehensive update of cancer genetics including family history assessment at its annual meeting. For more information about ASCO’s prevention and genetics work, visit:
More on the subject of genetic testing for cancer risk can be found at:
American Society of Clinical Oncology (ASCO)
Journal of Clinical Oncology
MD Anderson Cancer Center
Sloan Kettering Memorial Hospital