Genetic testing—whether to allow complete freedom? Direct to consumer tests versus genetic tests for medical purposes

Madej, Małgorzata; Maria, Sąsiadek; Witt, Michał

doi:10.1007/s13353-021-00670-z

Cited by 7 publications

(8 citation statements)

References 29 publications

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“…), biological plausibility (high, medium, low, unknown), assessment of scientific validity of the gene–diet interaction (conclusive, likely, possible and unproven). Compliance with ethical, legal and social norms when conducting, interpreting and prescribing a personal diet to the consumer [ 84 , 85 ]. …”

Section: Resultsmentioning

confidence: 99%

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Tackling Atherosclerosis via Selected Nutrition

Vesnina

Prosekov

Atuchin

et al. 2022

IJMS

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The development and pathogenesis of atherosclerosis are significantly influenced by lifestyle, particularly nutrition. The modern level of science and technology development promote personalized nutrition as an efficient preventive measure against atherosclerosis. In this survey, the factors were revealed that contribute to the formation of an individual approach to nutrition: genetic characteristics, the state of the microbiota of the gastrointestinal tract (GIT) and environmental factors (diets, bioactive components, cardioprotectors, etc.). In the course of the work, it was found that in order to analyze the predisposition to atherosclerosis associated with nutrition, genetic features affecting the metabolism of nutrients are significant. The genetic features include the presence of single nucleotide polymorphisms (SNP) of genes and epigenetic factors. The influence of telomere length on the pathogenesis of atherosclerosis and circadian rhythms was also considered. Relatively new is the study of the relationship between chrono-nutrition and the development of metabolic diseases. That is, to obtain the relationship between nutrition and atherosclerosis, a large number of genetic markers should be considered. In this relation, the question arises: “How many genetic features need to be analyzed in order to form a personalized diet for the consumer?” Basically, companies engaged in nutrigenetic research and choosing a diet for the prevention of a number of metabolic diseases use SNP analysis of genes that accounts for lipid metabolism, vitamins, the body’s antioxidant defense system, taste characteristics, etc. There is no set number of genetic markers. The main diets effective against the development of atherosclerosis were considered, and the most popular were the ketogenic, Mediterranean, and DASH-diets. The advantage of these diets is the content of foods with a low amount of carbohydrates, a high amount of vegetables, fruits and berries, as well as foods rich in antioxidants. However, due to the restrictions associated with climatic, geographical, material features, these diets are not available for a number of consumers. The way out is the use of functional products, dietary supplements. In this approach, the promising biologically active substances (BAS) that exhibit anti-atherosclerotic potential are: baicalin, resveratrol, curcumin, quercetin and other plant metabolites. Among the substances, those of animal origin are popular: squalene, coenzyme Q10, omega-3. For the prevention of atherosclerosis through personalized nutrition, it is necessary to analyze the genetic characteristics (SNP) associated with the metabolism of nutrients, to assess the state of the microbiota of the GIT. Based on the data obtained and food preferences, as well as the individual capabilities of the consumer, the optimal diet can be selected. It is topical to exclude nutrients of which their excess consumption stimulates the occurrence and pathogenesis of atherosclerosis and to enrich the diet with functional foods (FF), BAS containing the necessary anti-atherosclerotic, and stimulating microbiota of the GIT nutrients. Personalized nutrition is a topical preventive measure and there are a number of problems hindering the active use of this approach among consumers. The key factors include weak evidence of the influence of a number of genetic features, the high cost of the approach, and difficulties in the interpretation of the results. Eliminating these deficiencies will contribute to the maintenance of a healthy state of the population through nutrition.

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Section: Resultsmentioning

confidence: 99%

“…Compliance with ethical, legal and social norms when conducting, interpreting and prescribing a personal diet to the consumer [ 84 , 85 ].…”

Section: Resultsmentioning

confidence: 99%

Tackling Atherosclerosis via Selected Nutrition

Vesnina

Prosekov

Atuchin

et al. 2022

IJMS

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“…For those clinicians who only order genetic tests occasionally, maintaining the skills necessary for optimum delivery of testing will be challenging, therefore education will need to be ongoing. Whilst opinions vary on the level of gatekeeping of genetic testing (Malgorzata et al 2022 ) the legal framework implemented by European states and organizations strives to uphold the principles of informed consent, patient confidentiality, and the right to know and to refuse knowledge. A national genomic testing directory outlining testing repertoire with clinical criteria, test purpose, limitations, methodology, clinical validity, clinical utility and details of laboratory credentials would benefit service users.…”

Section: Discussionmentioning

confidence: 99%

Genetic services survey—experience of people with rare diseases and their families accessing genetic services in the Irish Republic

Ward,

Lambert,

Butterly

et al. 2023

J Community Genet

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Irish Health Service objectives state that patients with rare diseases should have timely access to genomic diagnostics with appropriate pre and post-test counselling. However, waiting times for clinical genetics outpatient appointments, during the study period, were up to two years as staffing levels remain low. A targeted public online survey was conducted in January 2022 to capture the experiences of Rare Disease families trying to access genetic testing and clinical genetic clinics in the Irish Republic. Irish patients experience significant waiting times to access clinical genetic services and self-report anxiety and stress, related to delayed access to diagnosis, clarity around recurrence risk and follow-up management. This negatively impacts personal decisions around family planning, education and employment and has a significant impact on family members seeking clarity on their own risk. Mainstream genetic testing activity is significant. Families report concern over the competency of health care professionals arranging and delivering genetic results and delays in accessing clinical genetics expertise to take them through the clinical implications. Timely access to clinical genetics expertise is important to ensure families with rare diseases have an appropriate understanding of the medical and reproductive implications of a genetic diagnosis and access to relevant care pathways. A national framework to develop competency in genomic literacy for health-care professionals including a national genetic test directory may be beneficial. Clinical genetics teams require ongoing support and investment to ensure the delivery of a safe and effective service for Irish families with rare diseases.

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“…DTC-GT offer several services; the most common are related to ancestry, disease risks, and lifestyle, including physical activity and diet [ 91 , 93 ]. These tests have impacted the personalization of pharmacotherapy (pharmacogenetics) [ 77 ] and diet therapy (nutrigenetics) [ 73 ].…”

Section: Genetic Testing (Gt)mentioning

confidence: 99%

Obesity and Nutrigenetics Testing: New Insights

Duarte,

Leite-Lais,

Agnez-Lima

et al. 2024

Nutrients

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Background: Obesity results from interactions between environmental factors, lifestyle, and genetics. In this scenario, nutritional genomics and nutrigenetic tests stand out, with the promise of helping patients avoid or treat obesity. This narrative review investigates whether nutrigenetic tests may help to prevent or treat obesity. Scientific studies in PubMed Science Direct were reviewed, focusing on using nutrigenetic tests in obesity. The work showed that few studies address the use of tools in obesity. However, most of the studies listed reported their beneficial effects in weight loss. Ethical conflicts were also discussed, as in most countries, there are no regulations to standardize these tools, and there needs to be more scientific knowledge for health professionals who interpret them. International Societies, such as the Academy of Nutrition and Dietetics and the Brazilian Association for the Study of Obesity and Metabolic Syndrome, do not recommend nutrigenetic tests to prevent or treat obesity, especially in isolation. Advancing nutrigenetics depends on strengthening three pillars: regulation between countries, scientific evidence with clinical validity, and professional training.

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Genetic testing—whether to allow complete freedom? Direct to consumer tests versus genetic tests for medical purposes

Cited by 7 publications

References 29 publications

Tackling Atherosclerosis via Selected Nutrition

Tackling Atherosclerosis via Selected Nutrition

Genetic services survey—experience of people with rare diseases and their families accessing genetic services in the Irish Republic

Obesity and Nutrigenetics Testing: New Insights

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