What Are the Possible Result Outcomes and What Do They Mean?  

The genetic conditions included in the proactive tests are inherited in one of the following ways:

1. Autosomal dominant   
2. Autosomal recessive   
3. X-linked   
4. Mitochondrial (only the MT-RNR1 gene is included) 

Some genetic conditions which are included in this test can demonstrate reduced penetrance or variable expressivity. This means that individuals who are found to have a likely pathogenic/pathogenic variant (LP/P) in certain genes are at an increased risk to develop the disease associated with that gene; some will and some may not.  Furthermore, some individuals will have a more severe presentation and outcome, whereas others will have a milder disease expression. Genetic test results cannot predict the course or progression of the disease.  

Possible results:

No likely pathogenic (LP) or pathogenic (P) genetic changes are identified in any of the genes this test tests for.

Implications: The chance of this healthy individual with no family history of these conditions to develop cancer or heart disease due to a genetic condition is decreased compared to the general population but it does not eliminate this chance completely. This is because this test may not be able to detect certain disease-causing variants, or some disease-causing variants might be in a region of the gene that is not included in the test. Not all genes which cause heart disease, cancer, and metabolic diseases are included in these tests.

A likely pathogenic (LP) or pathogenic (P) is identified in 1 or more genes this test tests for     

Implications: This healthy individual has a higher chance of developing the condition(s) associated with the gene. Follow-up and/or surveillance as recommended by published guidelines is indicated, regardless of whether the individual currently has symptoms.   

It is important to note that only a small number of heart diseases, cancers, and metabolic diseases have a monogenic cause; most cases are explained by a combination of both genetic and non-genetic factors. Negative proactive test results should not override a comprehensive review of personal and family history. A full review of an individual’s medical and family history is the best screening tool to evaluate an individual’s overall risk.

In summary, all proactive test results should be reviewed with a healthcare provider to discuss:   

1. Medical management recommendations and/or medical/family history evaluation.   
2. Family member testing as needed. Children, parents, and siblings of the individual undergoing testing may also be found to have the same genetic variant and also require ongoing follow-up. These relatives’ chance to inherit the genetic variant and their chance to develop the condition depends on their sex and the inheritance pattern.