Abstract
Direct-to-consumer tests opened the opportunity of genetic testing without medical supervision, e.g., without medical referral and medical interpretation of the results. Thus, these approaches allow for free access to information concerning individual genetic profile increasing the area of personal freedom, but also posing the risk of false (positive and negative) or misinterpreted results along with health and psychological negative consequences. The paper discusses medical and non-medical applications of DTC, exploring also the legal framework implemented by European states and organizations. These legal acts strive to control the developing DTC market through such basic principles as patient protection, informed consent, medical information confidentiality, and the rights to know and to refuse knowledge about one’s genetic predispositions.
Highlights
Direct-to-consumer tests (DTC) are available in direct sale and offer a possibility of genetic analysis, with no medical rationale and disregarding specialized, individualized interpretation of test results
Direct-to-consumer tests opened the opportunity of genetic testing without medical supervision, e.g., without medical referral and medical interpretation of the results
DTC are not an element of genetic diagnostics in medical terms, nor do they provide a possibility of specialized interpretation of the results for medical purposes
Summary
Genetic medical tests, performed for health purposes, are offered to patients with diagnosed or suspected genetic diseases. Pre-conception DTC are designed to identify carriers of rare mutations in future parents, aimed at identification of an increased risk of giving birth to a child with a recessive genetic disease (currently more than 8000 such rare or ultra-rare diseases are known) These tests, supplementing a family genetic history analysis, can be requested by physicians as diagnostic genetic tests for persons suspected for carrying a pathogenic variant, e.g., cystic fibrosis, ß-thalassemia, or spinal muscular atrophy. Identification of rare or ultra-rare pathogenic variants of the genome in families not yet burdened with the birth of a child with a genetic defect allow the patients to make conscious procreative decisions: e.g., forego having biological children, perform targeted prenatal tests, choose in vitro fertilization with targeted pre-implantation diagnostics, or adoption of a sperm/ oocyte Such procedures require specialist genetic counseling and highly specialized gynecological care. A special aspect of this diagnosis is a false result: false positives have a chance to be corrected in the medical procedure, but false negatives give the client a misleading sense of security, in practice depriving them of proper medical care (Capalbo et al 2021)
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