Publications by authors named "Yrrah Stol"

Background: Health checks or health screenings identify (risk factors for) disease in people without a specific medical indication. So far, the perspective of (potential) health check users has remained underexposed in discussions about the ethics and regulation of health checks.

Methods: In 2017, we conducted a qualitative study with lay people from the Netherlands (four focus groups).

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Background: Health checks identify (risk factors for) disease in people without symptoms. They may be offered by the government through population screenings and by other providers to individual users as 'personal health checks'. Health check providers' perspective of 'good' health checks may further the debate on the ethical evaluation and possible regulation of these personal health checks.

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The diagnosis of Lynch syndrome can lead to the prevention of colorectal cancer through periodic colonoscopies and removal of premalignant lesions in susceptible individuals. Therefore, predisposed individuals identified by mutation analysis are advised to inform their at-risk relatives about the options of predictive DNA testing and preventive measures. However, it has now been established that more than half of these relatives do not receive the necessary information.

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The arrival of new genetic technologies that allow efficient examination of the whole human genome (microarray, next-generation sequencing) will impact upon both laboratories (cytogenetic and molecular genetics in the first instance) and clinical/medical genetic services. The interpretation of analytical results in terms of their clinical relevance and the predicted health status poses a challenge to both laboratory and clinical geneticists, due to the wealth and complexity of the information obtained. There is a need to discuss how to best restructure the genetic services logistically and to determine the clinical utility of genetic testing so that patients can receive appropriate advice and genetic testing.

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If a hereditary predisposition to colorectal cancer or breast cancer is diagnosed, most guidelines state that clinical geneticists should request index patients to inform their at-risk relatives about the existence of this condition in their family, thus enabling them to consider presymptomatic genetic testing. Those identified as mutation carriers can undertake strategies to reduce their risk of developing the disease or to facilitate early diagnosis. This procedure of informing relatives through the index patient has been criticised, as it results in relatively few requests for genetic testing, conceivably because a certain number of relatives remain uninformed.

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