Genetic testing is frequently advised for individuals with specific health issues such as heart diseases, various cancers, and autoimmune illnesses. Whether you pursue testing based on your physician’s recommendation or choose to do it independently, your strategy for undergoing genetic testing is crucial.
Genetic counselors, such as Carol Cremin, MSc, CCGC from Vancouver and a clinical assistant professor at the University of British Columbia (UBC), are healthcare professionals skilled in providing advice to families regarding genetic disorders.
“Genetics significantly influences our health,” explains Cremin. “This importance spans all life stages: from prenatal and newborn phases, through childhood, and into adult conditions, like susceptibility to cancer.”
The Preventive Potential of Genetic Testing
The relationship between genetics, environmental factors, and lifestyle is intricate. Cremin states, “For some conditions, genetics may be the primary factor, while for others, it could be just a minor piece of the overall puzzle.”
In situations involving single-gene hereditary diseases, where a variant can be directly linked to an illness, a proactive course of action is possible. For instance, hereditary breast and ovarian cancers often arise from issues in the BRCA1 or BRCA2 genes. Cremin notes that there are established protocols for enhanced cancer screening and preventative measures for those identified with such genetic risks.
Conversely, genetic testing outcomes can sometimes be more ambiguous. Frequently, multiple genes, combined with various lifestyle and environmental influences, may contribute to conditions.
Cremin points out the common misconceptions about genomic variation. “Everyone has variants in their DNA, many of which are benign. Some variants pose a minimal risk for particular conditions, while others can either lead to a disease or significantly increase the risk,” she says.
Understanding Genomic Medicine
It is essential to recognize that not all genetic tests hold the same weight.
Genomic Diagnostic Testing
Diagnostic testing is meant to identify the specific genetic foundation of a condition you may have. This information can aid in making informed health management or treatment decisions.
Predictive/Pre-symptomatic Genetic Testing
This type of test assesses whether you have inherited a genetic variant linked to a particular hereditary condition within your family. It can help determine your risk status, potentially easing concerns and guiding your lifestyle and healthcare choices.
Pharmacogenomic Testing
This test reveals how your body metabolizes medications, assisting your healthcare provider in selecting prescriptions that align well with your genetic profile.
For those beginning their journey in genomics, reviewing genetic terminology can be beneficial. Cremin suggests visiting medlineplus.gov/genetics as a trustworthy source of information.
Genetics: A Fundamental Component
Genetic data represents only a part of a more extensive framework. Research into gene-environment interactions indicates that early life experiences can influence gene expression and regulation.
Additionally, the relationships between genes and lifestyle factors are actively studied, with nutrigenomics examining the interactions between genetics and dietary intake.
How Genetic Testing Operates
Genetic testing typically commences with collecting either a blood sample or a small saliva sample. Many patients of Andrew Krahn, MD, a former chief cardiologist at UBC and founder of Hearts in Rhythm Organization, appreciate that the majority of tests can now be conducted using saliva.
After sample collection, the genetic material is analyzed for variances that may lead to illness or disorders.
Important Questions to Consider
Krahn advises individuals to inquire how test outcomes will influence their care and to consider the benefits for their family members as well. For instance, grandparents might undergo genetic testing for the benefit of their grandchildren.
Cremin highlights the need to know about the support accessible during this process, whether genetic counseling is provided, and if the counselor holds certification from the Canadian Board of Genetic Counselling (CBGC) or the American Board of Genetic Counselling (ABGC).
Understanding the interpretation of genetic testing is critical. It’s essential to verify if the lab conducting the tests is accredited and follows established protocols for interpreting genetic variations.
Labs meeting standards set by the College of American Pathologists (CAP) and holding CLIA (Clinical Laboratory Improvement Amendments) certification are mandated to uphold quality benchmarks, says Cremin.
“In the absence of such accreditation, there is a risk of false positives and negatives,” Cremin explains. “Inaccuracies in variant interpretation can lead to harm.” In the intricate field of genetic medicine, obtaining accurate information from qualified professionals is vital.
This article was originally featured in the March 2025 issue of Intomodel magazine.
