My funky genetics : BRCA1/2 mutation carriers\u27 understanding of genetic inheritance and reproductive merger in the context of new reprogenetic technologies

Deleterious mutations in the BRCA1/BRCA2 genes elevate lifetime risk of breast and ovarian cancer. Each child of a mutation-positive parent has a 50% chance of inheriting it. Preimplantation genetic diagnosis (PGD) permits prospective parents to avoid the birth of a BRCA-mutation-positive child, introducing predictability into a process historically defined by chance. This investigation explored how BRCA1/2 mutation carriers understand genetic inheritance and consider a child\u27s inheritance of a BRCA1/2 mutation, given the opportunities that exist to pursue PGD. Thirty-nine female and male BRCA1/2 mutation carriers of reproductive age were recruited from urban cancer and reproductive medical centers. Participants completed a standardized educational presentation on PGD and prenatal diagnosis, with pre-and posttest assessments. An interdisciplinary team of qualitative researchers analyzed data using grounded theory techniques. Participants expressed the belief that reproduction yields children with unique genetic strengths and challenges, including the BRCA1/2 mutation, family traits for which predictive tests do not exist, and hypothetical genetic risks. Participants expressed preference for biologically related children, yet stated their genetically well partner\u27s lineage would be marred through reproductive merger, requiring the well partner to assume the burden of the BRCA1/2 mutation via their children. Participants expressed diverse views of genetically well partners\u27 participation in family planning and risk management decisions. Pressure to use reprogenetic technology may grow as genetic susceptibility testing becomes more widely available. Work with individuals and couples across the disease spectrum must be attuned to the ways beliefs about genetic inheritance play into reproductive decision-making. (PsycINFO Database Record (c) 2012 APA, all rights reserved) © 2012 American Psychological Association

Maine Gay Task Force Newsletter, Vol.3, No.01 (January 1976)

https://digitalcommons.usm.maine.edu/megtf/1010/thumbnail.jp

Maine Gay Task Force Newsletter, Vol.2, No.10 (October 1975)

https://digitalcommons.usm.maine.edu/megtf/1008/thumbnail.jp

Maine Gay Task Force Newsletter, Vol.2, No.11(December 1975)

https://digitalcommons.usm.maine.edu/megtf/1020/thumbnail.jp

Study within a trial (SWAT) protocol. Participants' perspectives and preferences on clinical trial result dissemination: The TRUST Thyroid Trial experience.

INTRODUCTION: Dissemination of results of randomised controlled trials is traditionally limited to academic and professional groups rather than clinical trial participants. While there is increasing consensus that results should be communicated to trial participants, there is a lack of evidence on the most appropriate methods of dissemination. This study within a trial (SWAT) aims to address this gap by using a public and patient involvement (PPI) approach to identify, develop and evaluate a patient-preferred method of receiving trial results of the Thyroid Hormone Replacement for Subclinical Hypothyroidism Trial (TRUST). METHODS: An experimental (intervention) study will be conducted using mixed methods to inform the development of and evaluation of a patient-preferred method of communication of trial results. The study will involve three consecutive phases. In the first phase, focus groups of trial participants will be conducted to identify a patient-preferred method of receiving trial results. The method will be developed and then assessed and refined by a patient and public expert group. In the second phase participants will be randomly assigned to the intervention (patient-preferred method) and comparison groups (standard dissemination method as developed by the lead study site in Glasgow, Scotland). In the third phase, a quantitative questionnaire will be used to measure and compare patient understanding of trial results between the two groups. DISCUSSION: This protocol provides a template for other trialists who wish to enhance patient and public involvement and additionally, will provide empirical evidence on how trialists should best disseminate study results to their participants

Using PM2.5 concentrations to estimate the health burden from solid fuel combustion, with application to Irish and Scottish homes

Background: This study estimates the potential population health burden from exposure to combustion-derived particulate air pollution in domestic settings in Ireland and Scotland. Methods: The study focused on solid fuel combustion used for heating and the use of gas for cooking. PM2.5 (particulate matter with an aerodynamic diameter < 2.5 μm) was used as the pollutant mixture indicator. Measured PM2.5 concentrations in homes using solid fuels were adjusted for other sources of PM2.5 by subtracting PM2.5 concentrations in homes using gas for cooking but not solid fuel heating. Health burden was estimated for exposure indoors 6 pm - midnight, or all day (24-hour), by combining estimated attributable annual PM2.5 exposures with (i) selected epidemiological functions linking PM2.5 with mortality and morbidity (involving some re-scaling from PM10 to PM2.5, and adjustments ‘translating’ from concentrations to exposures) and (ii) on the current population exposed and background rates of morbidity and mortality. Results: PM2.5 concentrations in coal and wood burning homes were similar to homes using gas for cooking, used here as a baseline (mean 24-hr PM2.5 concentrations 8.6 μg/m3) and so health impacts were not calculated. Concentrations of PM2.5 in homes using peat were higher (24-hr mean 15.6 μg/m3); however, health impacts were calculated for the exposed population in Ireland only; the proportion exposed in Scotland was very small. The assessment for winter evening exposure (estimated annual average increase of 2.11 μg/m3 over baseline) estimated 21 additional annual cases of all-cause mortality, 55 of chronic bronchitis, and 30,100 and 38,000 annual lower respiratory symptom days (including cough) and restricted activity days respectively. Conclusion: New methods for estimating the potential health burden of combustion-generated pollution from solid fuels in Irish and Scottish homes are provided. The methodology involves several approximations and uncertainties but is consistent with a wider movement towards quantifying risks in PM2.5 irrespective of source. Results show an effect of indoor smoke from using peat (but not wood or coal) for heating and cooking; but they do not suggest that this is a major public health issue

Participants' perspectives and preferences on clinical trial result dissemination: The TRUST Thyroid Trial experience.

Background: While there is an increasing consensus that clinical trial results should be shared with trial participants, there is a lack of evidence on the most appropriate methods. The aim of this study is to use a patient and public involvement (PPI) approach to identify, develop and evaluate a patient-preferred method of receiving results of the Thyroid Hormone Replacement for Subclinical Hypo-Thyroidism Trial (TRUST). Methods: This is a mixed methods study with three consecutive phases. Phase 1 iteratively developed a patient-preferred result method using semi-structured focus groups and a consensus-orientated-decision model, a PPI group to refine the method and adult literacy review for plain English assessment. Phase 2 was a single-blind parallel group trial. Irish TRUST participants were randomised to the intervention (patient-preferred method) and control group (standard method developed by lead study site). Phase 3 used a patient understanding questionnaire to compare patient understanding of results between the two methods. Results: Patients want to receive results of clinical trials, with qualitative findings indicating three key themes including 'acknowledgement of individual contribution', 'contributing for a collective benefit' and 'receiving accessible and easy to understand results'. Building on these findings, a patient-preferred method of receiving results was developed as described above. TRUST participants (n=101) were randomised to the intervention. The questionnaire response rate was 74% for the intervention group and 62% for the control group.  There were no differences in patient understanding between the two methods.  Conclusions: We have demonstrated that it is feasible to conduct PPI with regard to the dissemination of results. The study identified and developed a patient-preferred method of receiving clinical trial results for older adults over 65 years. Although, in this study PPI did not influence patients' final understanding of results, it provides a record of the process of conducting PPI within the clinical trial setting

Men's Preconception Health: A Primary Health-Care Viewpoint

The purpose of this article is to theoretically explore men’s preconception health as a mechanism to enhance fertility, as well as the health and well-being of the subject and his descendants. Premorbid risk factors and behaviors associated with stress, environmental toxins, excessive alcohol consumption, smoking, lack of exercise/obesity, and the use of illicit drugs are all known to affect fecundity. While there are many health clinics available to women, where advice in areas such as postnatal care of the newborn, family planning, and couples fertility is provided, there are few, if any, equivalent health clinics available to men. Additionally, getting men to attend primary health-care services has also been continuously problematic, even in the context of there being a clearly discernible need for treatment. It is argued in this article that an impetus is required to encourage men to focus on and improve their preconception health and to utilize primary health-care services to take action. An assertive men’s preconception health outlook can positively influence the conjugal relationship, fathering, male self-esteem, and continued good health. Using the sometimes complex concept of preconception health as a motivating factor for healthy lifestyle adaptation has the potential to improve male fertility outcomes and general health and well-being, as well as the health of future generations