Browsing by Subject "Genetic Counseling"
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Item Open Access f-treeGC: a questionnaire-based family tree-creation software for genetic counseling and genome cohort studies.(BMC medical genetics, 2017-07-14) Tokutomi, Tomoharu; Fukushima, Akimune; Yamamoto, Kayono; Bansho, Yasushi; Hachiya, Tsuyoshi; Shimizu, AtsushiThe Tohoku Medical Megabank project aims to create a next-generation personalized healthcare system by conducting large-scale genome-cohort studies involving three generations of local residents in the areas affected by the Great East Japan Earthquake. We collected medical and genomic information for developing a biobank to be used for this healthcare system. We designed a questionnaire-based pedigree-creation software program named "f-treeGC," which enables even less experienced medical practitioners to accurately and rapidly collect family health history and create pedigree charts.f-treeGC may be run on Adobe AIR. Pedigree charts are created in the following manner: 1) At system startup, the client is prompted to provide required information on the presence or absence of children; f-treeGC is capable of creating a pedigree up to three generations. 2) An interviewer fills out a multiple-choice questionnaire on genealogical information. 3) The information requested includes name, age, gender, general status, infertility status, pregnancy status, fetal status, and physical features or health conditions of individuals over three generations. In addition, information regarding the client and the proband, and birth order information, including multiple gestation, custody, multiple individuals, donor or surrogate, adoption, and consanguinity may be included. 4) f-treeGC shows only marriages between first cousins via the overlay function. 5) f-treeGC automatically creates a pedigree chart, and the chart-creation process is visible for inspection on the screen in real time. 6) The genealogical data may be saved as a file in the original format. The created/modified date and time may be changed as required, and the file may be password-protected and/or saved in read-only format. To enable sorting or searching from the database, the file name automatically contains the terms typed into the entry fields, including physical features or health conditions, by default. 7) Alternatively, family histories are collected using a completed foldable interview paper sheet named "f-sheet", which is identical to the questionnaire in f-treeGC.We developed a questionnaire-based family tree-creation software, named f-treeGC, which is fully compliant with international recommendations for standardized human pedigree nomenclature. The present software simplifies the process of collecting family histories and pedigrees, and has a variety of uses, from genome cohort studies or primary care to genetic counseling.Item Open Access Striking a balance in communicating pharmacogenetic test results: promoting comprehension and minimizing adverse psychological and behavioral response.(Patient education and counseling, 2014-10) Haga, Susanne B; Mills, Rachel; Bosworth, HaydenObjective
Pharmacogenetic (PGx) testing can provide information about a patient's likelihood to respond to a medication or experience an adverse event, and be used to inform medication selection and/or dosing. Promoting patient comprehension of PGx test results will be important to improving engagement and understanding of treatment decisions.Methods
The discussion in this paper is based on our experiences and the literature on communication of genetic test results for disease risk and broad risk communication strategies.Results
Clinical laboratory reports often describe PGx test results using standard terminology such as 'poor metabolizer' or 'ultra-rapid metabolizer.' While this type of terminology may promote patient recall with its simple, yet descriptive nature, it may be difficult for some patients to comprehend and/or cause adverse psychological or behavioral responses.Conclusion
The language used to communicate results and their significance to patients will be important to consider in order to minimize confusion and potential psychological consequences such as increased anxiety that can adversely impact medication-taking behaviors.Practice implications
Due to patients' unfamiliarity with PGx testing and the potential for confusion, adverse psychological effects, and decreased medication adherence, health providers need to be cognizant of the language used in discussing PGx test results with patients.