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Updated: Jan 6, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Genetic testing: real patient autonomy needs medical supervision
Federico Pennestrì1, Giuseppe Banfi2, Virginia Sanchini3
1Scientific Direction, Irccs Ospedale Galeazzi Sant-Ambrogio, Milan, Italy.
Abstract:
Adults who think to be at greater risk for developing some disease in the future make different choices about whether to get tested. Incidental findings resulting from patients tested for other clinical purposes, population screenings and research programs increase proportionally with genetic testing methodologies available in the market. Consumers can buy home kits online and receive test results without any doctor involved in the process. Increasing options for prenatal care put on women more testing choice and responsibility, which need qualified and punctual support to result more beneficial than detrimental. In our opinion, many issues related to genetic testing (incidental findings, direct-to-consumer use, prenatal care value) are due to lacking medical interpretation or supervision, because the one thing is the patient taking care in autonomy, the other thing is leaving patients alone to figure out whether a certain result is relevant to their health and choices. In particular, a doctor-patient relationship is crucial to avoid genetic reductionism, that is, underestimating the impact of clinical strategies, individual behavior, social network and living environment on health. Taking tests under appropriate medical supervision increases the opportunity to generate value and minimize risk, based on the informed preferences of the individual patient.
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