While the majority of cancer is sporadic and occurs by chance, approximately 5-10% is hereditary and occurs because an individual was born with a harmful change in a gene that increased their risk to develop cancer. In general, it is estimated that approximately 5-10% of breast cancer, 5% of colorectal cancer, and up to 25% of ovarian cancer is due to a harmful change in a gene associated with hereditary cancer. Other types of cancer may also be hereditary.
Hereditary cancers are caused by pathogenic variants (harmful changes) in certain genes passed from one generation to the next. These pathogenic variants are usually inherited from a parent and can significantly increase the risk for one or more cancers.
Sporadic cancers are caused by a random event and are not passed from one generation to the next within a family. Sporadic cancers occur more frequently as we get older due to environmental and lifestyle exposures such as diet, weight, exercise, smoking, and alcohol use among others.
When is Genetic Testing for Hereditary Cancers Appropriate?
Individuals with a personal and/or family history of the following may be at risk for hereditary breast, ovarian, and/or endometrial cancer. Family history includes first, second, and third-degree blood relatives (including parents, siblings, children, aunts/uncles, cousins, and grandparents).
- Cancer at a young age (under the age of 50)
- Rare cancers at any age (such as male breast cancer, ovarian cancer)
- More than one type of cancer in the same individual (also referred to as multiple primary cancers)
- 10 or more colon polyps
- A known genetic alteration in the family
- Multiple cases of cancers on one side of the family spanning multiple generations
- An individual of Ashkenazi Jewish descent with breast, ovarian or pancreatic at any age
It is important to provide detailed information on the personal and family histories of cancer, including ages of diagnosis, pathology, and relationship between family members. This information can help determine if testing is appropriate and which test is medically necessary, as well as may impact insurance coverage.
Hereditary Cancer Testing Options
- BRCA1/BRCA2 Ashkenazi Founder Panel (turnaround time 8-10 days) – Three Targeted Pathogenic Variants
- BRCA1/BRCA2 Sequencing and Deletion/Duplication Analysis (turnaround time 8-10 days)
- Breast Cancer Management Panel (turnaround time 2 weeks; RUSH surgical cases 8-10 days)
- Breast/Gyn Cancer Panel (turnaround time 2 weeks)
- Melanoma Panel (turnaround time 2 weeks)
- Pancreatic Cancer Panel (turnaround time 2 weeks)
- Pediatric Tumor Panel (turnaround time 3 weeks)
- PGL/PCC Panel (turnaround time 3 weeks)
- Hereditary Prostate Cancer Panel (turnaround time 2 weeks)
- Renal Cancer Panel (turnaround time 3 weeks)
- Hereditary MDS/Leukemia Panel (turnaround time 3 weeks)
- Hyperparathyroidism/Endocrine Tumor Panel (turnaround time 3 weeks)
- Brain Tumor Panel (turnaround time 3 weeks)
Hereditary cancer testing is offered by BioReference through GeneDx, Inc. GeneDx, a subsidiary of BioReference Laboratories, Inc. and an OPKO Health company, has been a leader in genetic testing since 2000. GeneDx offers a comprehensive testing menu which includes clinically relevant genes associated with hereditary cancer and meets the testing needs across clinical indications.
Tools for your Practice
A questionnaire which can help determine if individuals or other family members are candidates for genetic testing
MyGeneticsTree is a comprehensive, web-based tool for identifying patients who meet criteria for hereditary cancer genetic testing based on national guidelines.
MyGeneticsTree assesses patients’ personal and family medical histories, allows patients to securely share their risk assessment results, and assists healthcare providers with test ordering when patients meet criteria for hereditary cancer genetic testing. To learn more about MyGeneticsTree, contact your sales representative or send an email to firstname.lastname@example.org.
- Patient-friendly guides
- Panel fact sheets
- Patient videos
- Patient Friendly Reports that provide an explanation and discussion of individual test results and management options
- Genetic counseling services available upon request
Hereditary Cancer Testing Through GeneDx
GeneDx strives to make the genetic testing process as smooth as possible for patients and providers
- Genetic counselors are available for support with test selection and education
- Easy to complete requisition and family history forms
- Multiple specimen types accepted:
- Blood in EDTA (5-6 mL in lavender top tube)
- DNA (>20 ug)
- Buccal swab
- Cultured fibroblasts
- Skin punch biopsy
- Kits are available to aid in specimen collection and submission.
- Patient-friendly billing policy, including availability to conduct benefits investigations and financial assistance for qualifying patients.