Genetic tests results are sometimes ambiguous and not forthright, making them hard to explain and contextualise at times. When interpreting these results, a geneticist must consider the patient´s medical record, family history, and the type of genetic test that was carried out.
- A positive test result occurs when the lab provider identifies a specific alteration on the patients´ DNA. This result might confirm (or rule out) a suspected diagnosis, indicate mutation carriers or just highlight an increased probability of having a specific disorder. Relatives and family members share some genetic material, and thus a positive result might also implicate testing specific family members. If a physician is thinking of ordering a predictive genetic test, then it is critical to remember that it's likely the physician won't be able to determine the correct risk of a patient developing a disorder in the future, or with which severity.
- A negative test result occurs when the lab provider is not able to identify a specific alteration on the patients´ DNA. This result might confirm that the patient in question does not have a suspected diagnosis, or is not a carrier of a specific mutation, or just highlight that he does not have an increased probability of having a specific disorder. Nevertheless, it is important to note that a causal alteration/mutation can be missed, since several tests may not detect all genetic mutations and genes that cause a specific disorder. Thus, further testing might be required to confirm a negative result, using an independent test provider. For this reason, the choice of which the test to use may be sometimes hard for the physician.
- Uninformative/ Inconclusive test result occurs when the lab provider is not able to provide useful information. Uninformative test results appear at times since the general population has common natural variations in their DNA, called polymorphisms, that do not impact health. If a genetic test result identifies a DNA alteration that has not been associated with a disorder yet, it may be impossible to conclude if this is just a polymorphism or a disease-causing mutation. This result will not confirm or rule out a suspected diagnosis. Further testing of family members might be required in some specific cases to shed some light.
Moreover, the test result cannot have the same interpretation that is used for any other example report that a lab provider gave you. Most of genetic test results will be negative or uninformative and, thus, will have no useful information or knowledge to provide to the patient under study. However, it is important to remember that no results can be good results, this is, the best result a physician could expect in terms of the patients’ health!
Summing up, all these different outcomes of tests, makes the choice of which test (and method) to use an extremely complex one to accomplish. ELSIE is designed to guide the physicians through identifying the most suitable tests for their patients, and support the physicians before, during and after the medical appointment. In addition, ELSIE can direct them to a geneticist who will guide them in this decision. Please contact ELSIE at firstname.lastname@example.org.