Abstract
Aim of the study: Genetic testing is becoming increasingly common in clinical practice and health management; nonetheless, little is known about how the population approaches genetic services through private companies. Our study aims to describe socio-demographic aspects, health-related habits, and overall beliefs and knowledge about genetic risk and testing in a population of Italian citizens who decided to undergo a genetic examination through a private genetic company.Study design: A sample of 152 clients from an Italian private genetic company completed an ad-hoc survey from September 2016 to February 2018, addressing socio-demographic data, health habits, psycho-physic condition, perceived utility of genetic results, decision purposes about data sharing, and behavioral changes after results.Results: Participants (mean age 42.4) were predominantly female (82.2%) and were overall well-educated. Their main source of information were physicians (77%), and 41.1% entrusted the management of results to the same. Thirty-eight percentage underwent genetic analysis for cancer predisposition, 31.3% for fertility problems, 24% for dietary or intolerance issues in the period of enrolment. More than half of them (62.7%) reported a family history of the disease, and overall 69% had a current or past experience with a disease. Clients perceived the genetic screening as useful to adopt behaviors that may prevent disease onset (37.7%), to know their “real health status” (27.4%), and to adopt health-related behaviors (23.3%). 62.8% claimed they were motivated to change behaviors after results (healthier diet, practice exercise, medical checks), and they wanted to share results with their physician and family members.Discussion/Conclusion: The overview of consumers' profiles in Italy and other European countries can contribute to tailoring and regulating genetic services in a way that could be efficient in terms of healthy choices, behaviors, and health resource expenditures for the general public.
Highlights
Before the sequencing of the human genome, which refers to the individual’s entire genetic makeup, the general public had little reason to understand human genetics research and freely decide to undergo genetic testing for health-related purposes, since the science was limited and had little impact on most people’s daily lives
Clients who required genetic testing during pregnancy or for Medically Assisted Procreation (MAP) (PrenatalSafe, PrenatalScreen, Preimplantation genetic diagnosis, etc.) were excluded since they belong to an area accountable for being treated in a dedicated study
We investigated the link between parenthood and motivations for taking a genetic test
Summary
Before the sequencing of the human genome, which refers to the individual’s entire genetic makeup, the general public had little reason to understand human genetics research and freely decide to undergo genetic testing for health-related purposes, since the science was limited and had little impact on most people’s daily lives. Genomic science addresses genes and genetic materials as a dynamic system, revealing how genes work and interact with non-genetic factors, including the environment, and lifestyle experiences [4,5,6]. The current perspective is that gathering genetic risk information is not harmful but, on the contrary, could help people to make more informed decisions about their health, and GT users can be empowered in sharing decisions with their referred physicians [9,10,11]
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