What Is Genetic Testing?
Genetic testing involves conducting medical tests to identify specific mutations or alterations in a person’s genes. There are various types of genetic tests available, with ongoing developments in this field.
In the context of cancer, genetic testing is primarily employed to detect gene alterations associated with the disease.
The Genetics of Cancer
Is cancer a genetic disease?
Yes, cancer can be considered a genetic disease. It arises from changes or mutations in the genes of our cells, which can disrupt normal cell behavior, leading to uncontrolled growth and the formation of tumors. These genetic alterations can be inherited (passed down through generations) or acquired during a person’s lifetime due to various factors like environmental exposures, lifestyle choices, or spontaneous mutations.
However, it’s important to note that not all cancers are directly caused by genetic mutations. Some cancers are predominantly influenced by external factors, such as exposure to carcinogens or infections. Overall, the development of cancer is a complex interplay between genetic, environmental, and lifestyle factors.
Is cancer hereditary?
“Cancer itself can’t be passed down from parents to children. And genetic changes in tumor cells can’t be passed down. But a genetic change that increases the risk of cancer can be passed down (inherited) if it is present in a parent’s egg or sperm cells.” – National Cancer Institute
It’s important to note that not all cancers are hereditary. The majority of cancers are sporadic, meaning they occur due to a combination of genetic mutations acquired during a person’s lifetime, environmental factors, and lifestyle choices.
If there is a family history of certain types of cancer, genetic counseling and testing may be recommended to assess the risk and guide appropriate healthcare decisions. Remember, having a family history of cancer does not guarantee that an individual will develop cancer, but it may indicate an increased risk that warrants monitoring or preventive measures.
Should I get genetic testing for cancer risk?
The decision to undergo genetic testing for cancer risk is a highly personal one and should be based on careful consideration of various factors. Here are some points to consider:
Family History: If you have a significant family history of certain types of cancer, especially at a young age or in multiple family members, it may indicate an increased risk that could be due to an inherited genetic mutation.
Specific Gene Mutations: Some known genetic mutations, like BRCA1 and BRCA2, are associated with a higher risk of breast and ovarian cancers. If there is a known mutation in your family, testing may be recommended.
Informed Decision: It’s crucial to understand the implications of genetic testing, including the potential emotional, psychological, and medical consequences of the results.
Access to Counseling: Genetic counseling is an important component of the testing process. A genetic counselor can help you understand the implications of the results and provide guidance on next steps.
It’s essential to consult with a healthcare provider or a genetic counselor who can provide personalized advice based on your specific situation and concerns. They can help you weigh the pros and cons and make an informed decision that aligns with your individual circumstances and preferences.
Questions to ask the health care team
Is my cancer caused by a genetic mutation?
Did one of my parents pass on the genetic mutation that caused my cancer? Is my cancer part of an inherited syndrome?
Could I pass a genetic mutation that causes cancer to my children?
Was there anything in my environment that could have caused my cancer?
Does knowing about my genes help us choose the best cancer treatment?
- Chromosomal Variation in Man
- Ensembl (Joint software project between the European Bioinformatics Institute and the Wellcome Trust Sanger Institute)
- International Cancer Genome Consortium Data Portal
- Leiden Open Variation Database
- KMcancerDB
- National Center for Biotechnology Information: Genomic Biology
- Online Mendelian Inheritance in Man (OMIM)
- UCSC Genome Bioinformatics
Consumer/Client: General Information
Source: National Cancer Institute
- Dictionary of Genetics Terms (NCI)
- DNA Learning Center
- The DNA Files
- Facing Our Risk of Cancer Empowered (FORCE)
- Genetic and Rare Diseases Information Center (National Human Genome Research Institute [NHGRI])
- Genetic Science Learning Center (The University of Utah)
- Genetic Testing for Inherited Cancer Susceptibility Syndromes (NCI)
- MedlinePlus: Genetics (National Library of Medicine)
- Talking Glossary of Genetics Terms (NHGRI)
Risk Assessment Information
Source: National Cancer Institute
- Breast Cancer Genetics Referral Screening Tool (B-RST)
- Breast Cancer Risk Assessment Tool (National Cancer Institute [NCI])
- Colorectal Cancer Risk Assessment Tool (NCI)
- Family Health Risk Calculator (The Ohio State University Medical Center)
- Melanoma Risk Assessment Tool (NCI)
Health Professional Practice and Genetics Education Information
Source: National Cancer Institute
- Centre for Genetics Education
- DNA Learning Center
- Essentials of Genetic and Genomic Nursing: Competencies, Curricula Guidelines, and Outcome Indicators, 2nd edition
- Genetics/Genomics Competency Center (G2C2)Exit Disclaimer
- Genetics Toolkit (American Society of Clinical Oncology)
- Genetics Toolkit (Society of Gynecologic Oncology)
- Genomic Applications in Practice and Prevention Network (GAPPNet)
- Medical School Core Curriculum in Genetics
- National Genetics and Genomics Education Centre
Professional Organizations: Genetics
Source: National Cancer Institute
- American Board of Genetic Counseling (ABGC)
- American Board of Medical Genetics and Genomics (ABMGG)
- American College of Medical Genetics and Genomics (ACMG)
- American Society of Human Genetics (ASHG)
- Genetics Society of America (GSA)
- International Society of Nurses in Genetics (ISONG)
- National Society of Genetic Counselors (NSGC)
Clinical Management Information
Source: National Cancer Institute
- Clinical Practice Guidelines from the American College of Medical Genetics and Genomics (ACMG)Exit Disclaimer
- Clinical Practice Guidelines from the American Society of Clinical Oncology (ASCO)Exit Disclaimer
- National Comprehensive Cancer Network (NCCN) GuidelinesExit Disclaimer
- National Guideline Clearinghouse from the Agency for Healthcare Research and Quality (AHRQ)
Cancer News & Resources
Genetic Testing Organizations in the United States List
List of genetic testing organizations in the United States that specialize in cancer-related genetic testing: Color Genomics: Offers genetic testing…