American College Of Surgeons - Inspiring Quality: Highest Standards, Better Outcomes

Standard 2.16: Genetic Evaluation and Management

Cancer risk assessment, genetic counseling, and genetic testing services are provided or referred.

Definition and Requirements

Cancer risk assessment and genetic counseling is the process of identifying and counseling individuals at risk for familial or hereditary breast cancer syndromes. As an important part of normal patient care an initial cancer risk assessment is generally conducted by treating clinicians in the form of a basic family history. The purpose of genetic counseling is to further educate patients about their risk of developing breast cancers, help them obtain personal meaning from cancer genetic information, and to empower them to make educated and informed decisions about genetic testing, cancer screening, and cancer prevention. Identifying patients at increased risk of developing breast and other cancers due to a family history of breast and other cancers or a known hereditary cancer syndrome can have dramatic effects on early detection and cancer outcomes. For this reason, cancer risk assessment and genetic counseling has become the standard of care for patients with a personal and/or family history of breast cancer.

Breast cancer patients are referred to a cancer genetics professional based on national guidelines (for example, the National Comprehensive Cancer Network [NCCN], the American Society of Clinical Oncology [ASCO], or the American Society of Breast Surgeons [ASBrS]).

Genetic counseling is performed by a cancer genetics professional who has an educational background in genetics and cancer genetics, counseling, and hereditary cancer syndromes and can provide accurate risk assessment and empathetic genetic counseling to cancer patients and their families.

Pre-Test Counseling

  • Collect relevant information needed to assess a patient’s personal and family medical history: A three- to four-generation pedigree, including detailed medical information about the patient’s first-, second-, and third-degree relatives should be obtained. Gathering information about both paternal and maternal family history, ancestry/ ethnicity, and consanguinity is necessary.
  • Evaluate the patient’s cancer risk: One aspect of risk assessment is discussing the absolute risk that the patient will develop a specific type of cancer or cancers based on the family history. The second aspect is the risk that the patient carries a heritable or germline mutation in a cancer susceptibility gene.
  • Perform a psychosocial assessment.
  • Educate the patient about the suspected hereditary cancer syndrome, if appropriate: The provider should review cancer risks associated with gene mutations, including basic concepts such as genes and inheritance patterns and more advanced concepts of penetrance and variability expressivity and the possibility of genetic heterogeneity.
  • Obtain informed consent for genetic testing, when recommended: The informed consent should include the purpose of the test and who the ideal person is to test, possible test results, likelihood of positive results, technical aspects and accuracy of the test, the possibility of inconclusive test results and how these results affect medical management, economics and insurance considerations, laws protecting against genetic discrimination, utilization of test results, alternatives to genetic testing, and the storage and potential reuse of genetic material.

Post-Test Counseling

  • Disclosure of the results and posttest counseling should include a discussion of the results, significance and impact of the test results, medical management options, informing other relatives, future contact, and available resources.

Process Requirements

Genetic counseling is provided by:

  • An American Board of Genetic Counseling (ABGC) board-certified/board-eligible genetic counselor or (in some states) a licensed genetic counselor.
  • An American College of Medical Genetics (ACMG) physician board certified in medical genetics.
  • A genetics clinical nurse (GCN), an advanced practice nurse in genetics (APNG), or a nurse who is Advanced Genetics Nursing-Board Certified (AGN-BC) credentialed through the American Nurses Credential Center (ANCC). Credentialing is obtained through successful completion of a professional portfolio review process.
  • An advanced practice oncology nurse (APON) who is prepared at the graduate level (master’s or doctorate) with specialized education in cancer genetics and hereditary cancer predisposition syndromes; certification by the Oncology Nursing Certification Corporation (ONCC) as AOCNP or AOCNS is preferred.
  • A board-certified/board-eligible physician or other trained health care professional with expertise and experience in cancer genetics (defined as providing cancer risk assessment on a regular basis) employing a model that includes both pretest and posttest counseling.

Patients identified to have a variant of uncertain significance (VUS) on a hereditary cancer panel and tested by one of the above providers listed in this specific bullet point need to be referred to a genetics professional for assistance with interpretation for the patient and the patient’s family.

Centers that are geographically challenged or do not have access to a board-certified or licensed genetic counselor may utilize the services of a nationwide network of genetic experts available by telephone to provide consultation and guidance.

Continuing Education Requirement

Specialized training in cancer genetics is ongoing and documented with Continuing Medical Education (CME) Credit/Continuing Education Units (CEU) in the field of breast cancer genetics. Two (2) CME Credits/CEUs are obtained annually, ideally with one related to breast cancer susceptibility gene (BRCA)1/2 and one related to genes other than BRCA1/2 that cause hereditary breast cancer.

Educational seminars should include the spectrum of services for breast cancer genetics, including genetic risk assessment, genetic counseling, indications and decision-making regarding genetic testing, and appropriate posttest counseling. Education limited to learning how to order a genetic test is not considered adequate training for risk assessment and genetic counseling.

Documentation

Complete all required standard fields in the Survey Application Record (SAR).

Describe the process by which patients get genetic assessment and counselling.

Provide certification/credentialing for the cancer genetics professional(s) performing genetic counseling.

Provide documentation on annual CME Credits/CEUs obtained by cancer genetics professional(s) performing genetic counseling.

Evaluation

The surveyor will confirm that cancer risk assessment, genetic counseling, and genetic testing services are provided or referred based on national guidelines during the site visit.

The surveyor will confirm the certification/credentialing of the cancer genetics professional(s) during the site visit.

The surveyor will review the annual CME Credits/CEUs obtained by cancer genetics professional(s) during the site visit.

Rating Compliance

Compliance

  1. Cancer risk assessment, genetic counseling, and genetic testing services are provided or referred.
  2. Breast cancer patients are referred to a cancer genetics professional based on national guidelines (for example, NCCN, ASCO, ASBrS).
  3. Genetic counseling is performed by certified/credentialed cancer genetics professional(s) or a board-certified/board-eligible physician or other trained health care professional with expertise and experience in cancer genetics.
  4. Cancer genetics professional(s) obtain two (2) breast-related CME Credits/CEUs (ideally with one related to BRCA1/2 and one related to genes other than BRCA1/2 that cause hereditary breast cancer) annually.

Noncompliance

The center does not fulfill one or more of the compliance criteria.

Resources

Guidelines and recommendations for cancer risk assessment and genetic counseling for hereditary breast cancer syndromes