OBITUARY Albert de la Chapelle (1933-2020)

Non peer reviewe

Onko suomalainen tautiperintö muuttumassa?

VertaisarvioituSuomalainen tautiperintö tarkoittaa harvinaisia, yhden geenin virheestä johtuvia tauteja, jotka ovat Suomessa yleisempiä kuin muualla. Käsite sisältää sen, että eräitä muualla yleisiä vastaavia tauteja puuttuu suomalaisilta lähes täysin. Kaupungistuminen ja globaali liikkuvuus muuttavat näiden tautien esiintymistä. Genomiikka tarjoaa uusia mahdollisuuksia niiden ehkäisyynPeer reviewe

Editorial : Can population health be personalized? Estonia and Finland as examples

Non peer reviewe

Psychosocial Effects of Receiving Genome-Wide Polygenic Risk Information Concerning Type 2 Diabetes and Coronary Heart Disease : A Randomized Controlled Trial

Receiving polygenic risk estimates of future disease through health care or direct-to-consumer companies is expected to become more common in the coming decades. However, only a limited number of studies have examined if such estimates might evoke an adverse psychosocial reaction in receivers. The present study utilized data from a sub-section of a personalized medicine project (the P5 study) that combines genomic and traditional health data to evaluate participants' risk for certain common diseases. We investigated how communication of future disease risk estimates related to type 2 diabetes and coronary heart disease influenced respondents' risk perception, self-efficacy, disease-related worry, and other emotions. A randomized controlled trial was conducted, where the experimental group (n = 714) received risk estimates based on traditional and polygenic risk factors and the control group (n = 649) based solely on traditional risk factors. On average, higher disease risk was associated with higher perceived risk (ps, 0.06).Peer reviewe

Family history and perceived risk of diabetes, cardiovascular disease, cancer, and depression

Background: Family history is a useful and inexpensive tool to assess risks of multifactorial diseases. Family history enables individualized disease prevention, but its effects on perceived risks of various diseases need to be understood in more detail. We examined how family history relates to perceived risk of diabetes mellitus, cardiovascular disease (CVD), cancer, and depression, and whether these associations are independent of or moderated by sociodemographic factors, health behavior/weight status (smoking, alcohol consumption, physical activity, BMI [kg/m²]), or depressive symptoms. Methods: Participants were Finnish 25−74-year-olds (N=6258) from a population-based FINRISK 2007 study. Perceived absolute lifetime risks (1–5) and first-degree family history of CVD, diabetes, cancer and depression, and health behaviors were self-reported. Weight and height were measured in a health examination. Results: Family history was most prevalent for cancer (36.7 %), least for depression (19.6 %). Perceived risk mean was highest for CVD (2.8), lowest for depression (2.0). Association between family history and perceived risk was strongest for diabetes (β=0.34, P<0.001), weakest for depression (β=0.19, P<0.001). Adjusting for sociodemographics, health behavior, and depressive symptoms did not change these associations. The association between family history and perceived risk tended to be stronger among younger than among older adults, but similar regardless of health behaviors or depressive symptoms. Discussion: Association between family history and perceived risk varies across diseases. People’s current understandings on heritability need to be acknowledged in risk communication practices. Future research should seek to identify effective strategies to combine familial and genetic risk communication in disease prevention.Peer reviewe

“I would like to discuss it further with an expert” : a focus group study of Finnish adults’ perspectives on genetic secondary findings

Lowered costs of genomic sequencing facilitate analyzing large segments of genetic data. Ethical debate has focused on whether and what kind of incidental or secondary findings (SFs) to report, and how to obtain valid informed consent. However, people’s support needs after receiving SFs have received less attention. We explored Finnish adults’ perspectives on reporting genetic SFs. In this qualitative study which included four focus group discussions (N = 23) we used four vignette letters, each reporting a genetic SF predisposing to a different disease: familial hypercholesterolemia, long QT syndrome, Lynch syndrome, and Li-Fraumeni syndrome. Transcribed focus group discussions were analyzed using inductive thematic analysis. Major themes were immediate shock, dealing with worry and heightened risk, fear of being left alone to deal with SFs, disclosing to family, and identified support needs. Despite their willingness to receive SFs, participants were concerned about being left alone to deal with them. Empathetic expert support and timely access to preventive care were seen as essential to coping with shock and worry, and disclosing SFs to family. Discussion around SFs needs to concern not only which findings to report, but also how healthcare systems need to prepare for providing timely access to preventive care and support for individuals and families.Lowered costs of genomic sequencing facilitate analyzing large segments of genetic data. Ethical debate has focused on whether and what kind of incidental or secondary findings (SFs) to report, and how to obtain valid informed consent. However, people’s support needs after receiving SFs have received less attention. We explored Finnish adults’ perspectives on reporting genetic SFs. In this qualitative study which included four focus group discussions (N = 23) we used four vignette letters, each reporting a genetic SF predisposing to a different disease: familial hypercholesterolemia, long QT syndrome, Lynch syndrome, and Li-Fraumeni syndrome. Transcribed focus group discussions were analyzed using inductive thematic analysis. Major themes were immediate shock, dealing with worry and heightened risk, fear of being left alone to deal with SFs, disclosing to family, and identified support needs. Despite their willingness to receive SFs, participants were concerned about being left alone to deal with them. Empathetic expert support and timely access to preventive care were seen as essential to coping with shock and worry, and disclosing SFs to family. Discussion around SFs needs to concern not only which findings to report, but also how healthcare systems need to prepare for providing timely access to preventive care and support for individuals and families.Peer reviewe

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