Consent for genetic research in the Framingham Heart Study.

Extensive efforts have been aimed at understanding the genetic underpinnings of complex diseases that affect humans. Numerous genome-wide association studies have assessed the association of genes with human disease, including the Framingham Heart Study (FHS), which genotyped 550,000 SNPs in 9,000 participants. The success of such efforts requires high rates of consent by participants, which is dependent on ethical oversight, communications, and trust between research participants and investigators. To study this we calculated percentages of participants who consented to collection of DNA and to various uses of their genetic information in two FHS cohorts between 2002 and 2009. The data included rates of consent for providing a DNA sample, creating an immortalized cell line, conducting research on various genetic conditions including those that might be considered sensitive, and for notifying participants of clinically significant genetic findings were above 95%. Only with regard to granting permission to share DNA or genetic findings with for-profit companies was the consent rate below 95%. We concluded that the FHS has maintained high rates of retention and consent for genetic research that has provided the scientific freedom to establish collaborations and address a broad range of research questions. We speculate that our high rates of consent have been achieved by establishing frequent and open communications with participants that highlight extensive oversight procedures. Our approach to maintaining high consent rates via ethical oversight of genetic research and communication with study participants is summarized in this report and should be of help to other studies engaged in similar types of research. Published 2010 Wiley-Liss, Inc.

Advance care planning and health care preferences of community-dwelling elders: the Framingham Heart Study.

OBJECTIVE: The study objective was to describe self-reported advance care planning, health care preferences, use of advance directives, and health perceptions in a very elderly community-dwelling sample. METHODS: We interviewed surviving participants of the original cohort of the Framingham Heart Study who were cognitively intact and attended a routine research examination between February 2004 and October 2005. Participants were queried about discussions about end-of-life care, preferences for care, documentation of advance directives, and health perceptions. RESULTS: Among 220 community-dwelling respondents, 67% were women with a mean age of 88 years (range 84-100 years). Overall, 69% discussed their wishes for medical care at the end of life with someone, but only 17% discussed their wishes with a physician or health care provider. Two thirds had a health care proxy, 55% had a living will, and 41% had both. Most (80%) respondents preferred comfort care over life-extending care, and 71% preferred to die at home; however, substantially fewer respondents said they would rather die than receive specific life-prolonging interventions (chronic ventilator [63%] or feeding tube [64%]). Many were willing to endure distressing health states, with fewer than half indicating that they would rather die than live out their life in a great deal of pain (46%) or be confused and/or forgetful (45%) all of the time. CONCLUSIONS: Although the vast majority of very elderly community-dwellers in this sample appear to prefer comfort measures at the end of life, many said they were willing to endure specific life-prolonging interventions and distressing health states to avoid death. Our results highlight the need for physicians to better understand patients' preferences and goals of care to help them make informed decisions at the end of life.