Guidelines and Policies

Genetic testing

FirmaLab subscribes to the definition “genetic test” put forth by the NHGRI Genetic Testing Taskforce. Genetic tests are “The analysis of human DNA, RNA, chromosomes, proteins, and certain metabolites in order to detect heritable disease-related genotypes, mutations, phenotypes or karyotypes for clinical purposes. Such purposes include predicting risk of disease, identifying carriers and establishing prenatal and clinical diagnosis or prognosis. Prenatal, newborn and carrier screening, as well as testing in high-risk families, are included. Tests for metabolites are covered only when they are undertaken with high probability that an excess or deficiency of the metabolite indicates the presence of heritable mutations in single genes. Tests conducted purely for research are excluded from the definition, as are tests for somatic (as opposed to heritable) mutations, and testing for forensic purposes.”

The purpose of the genetic testing may be divided to the following categories:

  • Testing for clinical management: Genetic testing done in order for a healthcare professional to make the necessary clinical decisions to maximize chance of successful treatment. We view this category as the most important reason to perform genetic testing, and requires minimal pre testing counseling by the healthcare professionals ordering the test.
  • Testing for confirmation of diagnosis: Genetic testing done to confirm a diagnosis made based on clinical information and the phenotype of the patient. We view this category of significant value, and requires verbal but thorough informed consent, pre testing, and post testing consultation by a qualified healthcare professional.
  • Testing for risk assessment: Genetic testing done, in healthy or apparently healthy people, as a predictive or risk assessment test. Predictive test results do not necessarily mean that the disease will inevitably occur or remain absent; they replace the individual's prior risks based on population data or family history with risks based on genotype. Some, but not all, predictive genetic testing falls under the rubric “genetic screening,” a search in a population for persons possessing certain genotypes. FirmaLab views this category of significant value only for appropriately chosen patients. In such cases, FirmaLab subscribes to the policy of “Your Genes, Your Choices”, which is found below. FirmaLab requires written informed consent, and thorough pre testing, and post testing consultation by the patients well informed physician or genetic counselor.
  • Carrier Testing: (synonyms: carrier detection, heterozygote testing) Testing used to identify usually asymptomatic individuals who have a gene mutation for an autosomal recessive or X-linked disorder. Carrier testing is offered to individuals who (A) have family members with a genetic condition, (B) have family members identified as carriers, or (C) are members of ethnic or racial groups known to have a higher carrier rate for a particular condition (high risk populations).

Your Genes, Your Choices. In cases of genetic testing for the purpose of risk assessment or carrier testing, the patient should be well informed regarding the potential implications of such tests, prior to undergoing the test. The information gained from genetic testing may irreversibly affect lives of patients and their loved ones, including personal, family, social, and professional activities. During the pre-test consultation, individuals should consider all possible results, and how each results can affect their lives, and the lives of their loved ones. Additionally, anonymous testing is available, which would increase the confidentiality of the testing and the results. If the ordering physician or counselor is not convinced that their patient can understand and can cope with all possible results of the test, then we recommend against genetic tests for purposes of risk assessment or carrier status.

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