Gail Geller

Public Expectations for Return of Results from Large-Cohort Genetic Research

The National Institutes of Health and other federal health agencies are considering establishing a national biobank to study the roles of genes and environment in human health. A preliminary public engagement study was conducted to assess public attitudes and concerns about the proposed biobank, including the expectations for return of individual research results. A total of 141 adults of different ages, incomes, genders, ethnicities, and races participated in 16 focus groups in six locations across the country. Focus group participants voiced a strong desire to be able to access individual research results. Recognizing the wide range of possible research results from a large cohort study, they repeatedly and spontaneously suggested that cohort study participants be given ongoing choices as to which results they received.

Characteristics, diagnosis, and treatment of alcoholism in elderly patients.

The purpose of this study is to examine the ability of physicians to diagnose alcoholism in the elderly patient and to define characteristics specific to the elderly patient with alcoholism. During a 3‐month period, all new admissions to the medical service of The Johns Hopkins Hospital were screened for alcoholism with two screening tests (the CAGE questionnaire and Short Michigan Alcohol Screening Test). The prevalence of screen‐positive alcoholism was 27% in patients under 60 years of age and 21% in patients 60 years and older. Elderly patients with alcoholism were more likely to be black (P < .01), but did not differ significantly in any other way from elderly patients who did not have alcoholism. Although 60% of screen‐positive young patients with alcoholism were identified by their houseofficers, only 37% of elderly patients with screenpositive alcoholism were so identified (P < .05). The elderly patients with alcoholism were significantly less likely to be diagnosed by their houseofficer if they were white, female, or had completed high school (P < .01). Even when diagnosed, elderly patients with alcoholism were less likely than younger patients with alcoholism to have treatment recommended by their houseofficers (P < .05) and, if treatment were recommended, it was less likely to be initiated (P < .05). These data suggest that current medical education is deficient in providing physicians with the skills to detect and treat elderly patients with alcoholism.

Transitioning to Breast Cancer Survivorship: Perspectives of Patients, Cancer Specialists, and Primary Care Providers

ABSTRACTBACKGROUNDLimited research exists regarding views of patients, oncology specialists, and primary care providers (PCPs) concerning breast cancer survivorship care.OBJECTIVETo qualitatively explore the needs and priorities of breast cancer survivors, oncology specialists, and PCPs.METHODSFocus groups were conducted of survivors (21 in 5 groups), PCPs (15 in 2 groups), and oncology specialists (16 in 2 groups). One survivor group consisted of four African-Americans. Discussions used a semi-structured guide, were transcribed verbatim, and were analyzed qualitatively. Groups explored transitions to follow-up, communication, patient needs, and provider roles.RESULTSSurvivors form intense relationships with specialists for reassurance and expertise. Many believed PCPs lacked necessary oncology expertise. Survivors reported psychosocial and communication issues. African-Americans cited concerns about access to care and clinical trials, as well as taboos to discussing cancer. Specialists reported that they struggle with discharging survivors due to protective relationships. PCPs were concerned about time and training to provide survivorship care and communication problems with oncologists. Written survivorship care plans were regarded by all groups as possibly helpful, but insufficient to ease the transition.CONCLUSIONSBreast cancer patients may experience difficulties transitioning to survivorship, including ongoing psychosocial issues. African-American patients may face additional and unique barriers to successful survivorship. Oncology specialists may have concerns about discharging cherished patients. These findings suggest a psychological component that may influence the use of written survivorship care plans. PCPs may need additional training and greater access to specialists in order to care for survivors.

Public Perspectives on Informed Consent for Biobanking

The National Institutes of Health and other federal health agencies are considering establishing a national biobank to study the roles of genes and environment in health. We assessed the publics attitudes toward the proposed biobank, including preferences for providing informed consent. Sixteen focus groups were conducted, and themes arising from the focus groups were tested in a large, representative survey (n=4659) of the general population. Our research demonstrates that when considering participating in a genomic biobank, individuals want ongoing choices and control over access to their samples and information.

Improving response rates through incentive and follow-up: The effect on a survey of physicians' knowledge of genetics

OBJECTIVES This study assessed efforts to increase response rates to a mailed physician survey and examined whether, as a result, nonresponse bias was reduced. METHODS Randomly selected physicians and geneticists were mailed a questionnaire concerning genetics knowledge and attitudes. In the final but not the pilot survey, a

Informed consent for enrolling minors in genetic susceptibility research: a qualitative study of at-risk children’s and parents’ views about children’s role in decision-making

25 incentive and intensive follow-up were used to increase the response rate. RESULTS The response rate from physicians in the final survey was 64.8% (n = 1140), compared with 19.6% in the pilot test (n = 69). Sample representatives in sociodemographic and practice characteristics was improved by follow-up. Respondents recruited with more difficulty did not differ on the principal outcome variable, genetics knowledge, except on one subscore. Pilot study and final survey respondents did not differ in knowledge. CONCLUSIONS Although the effect of increased response rates on the principal outcome variable in this study was minimal, this may not be the case for other studies. Every effort should be made to attain as high a response rate as is practical and to establish that respondents are representative of the population being sampled.

Ethical implications of including children in a large biobank for genetic-epidemiologic research: A qualitative study of public opinion

PURPOSE To better understand the process by which families at increased risk of disease would decide to enroll their children in genetic susceptibility research in order to develop recommendations regarding the informed consent process by which at-risk children are enrolled in such research in the future [corrected]. METHODS Parents and children (ages 10-17 years) from families at increased risk for heart disease (n = 21 dyads) or breast cancer (n = 16 dyads) participated in two face-to-face, audio-taped, semi-structured interviews: Initial interviews were conducted with parents and children separately, and follow-up family interviews were conducted 1 year later. Interview transcripts were coded based on common themes. RESULTS Families vary in the stage at which, and degree to which, children would be involved in decision-making about research participation. In general, the older/more mature the child, the less risky the research and the more open the communication style, the greater the likelihood that decisions would be made jointly. Most children wanted some parental input, but still thought the final decision should be theirs. Most parents would want to make the initial decision about whether it would be reasonable to consider enrolling their child in the research being proposed, but none opposed the child having some time alone with the researcher. All parents and children in our study placed extreme importance on not forcing children to participate in nontherapeutic research if they do not want to. CONCLUSIONS Decision-making about enrolling children in genetic susceptibility research should be based on an informed consent process that (a) gives parents and children sufficient opportunity to ask questions of the researcher(s) and to communicate with one another, and (b) gives children the opportunity to exercise their right to refuse participation without parental influence. This process should be tailored to the childs maturity level and style of communication in the family.

What Does ‘Respect’ Mean? Exploring the Moral Obligation of Health Professionals to Respect Patients

The National Institutes of Health and other federal agencies are considering initiating a cohort study of 500,000 people, including 120,000 children, to measure genetic and environmental influences on common diseases. A community engagement pilot study was conducted to identify public attitudes and concerns about the proposed cohort study, including the ethics of involving children. The pilot included 15 focus groups where the inclusion of children in the proposed cohort study was discussed. Focus groups, conducted in six cities, included 141 adults of different ages, incomes, genders, ethnicities, and races. Many of the concerns expressed by participants mirrored those addressed in pediatric research guidelines. These concerns included minimizing childrens fear, pain, and burdens; whether to include young children; and how to obtain childrens assent. There was little agreement about which children can assent. Some voiced concern about childrens privacy, but most expected that parents would have access to childrens study results. Some believed children would not benefit from participating, while others identified personal and societal benefits that might accrue. A few people believed that childrens participation would not advance the studys goals. To successfully include children, proposed cohort study would need to address childrens changing capabilities and rights as they grow and reach the age of consent.

Prenatal Genetic Testing: Content of Discussions Between Obstetric Providers and Pregnant Women

Respect is frequently invoked as an integral aspect of ethics and professionalism in medicine, yet it is often unclear what respect means in this setting. While we recognize that there are many reasonable ways to think about and use the term ‘respect’, in this paper, we develop a conception of respect that imposes a distinct moral duty on physicians. We are concerned mainly with the idea of respect for persons, or more specifically, respect for patients as persons. We develop an account of respect as recognition of the unconditional value of patients as persons. Such respect involves respecting the autonomy of patients, but we challenge the idea that respect for autonomy is a complete or self-sufficient expression of respect for persons. Furthermore, we suggest that the type of respect that physicians owe to patients is independent of a patient’s personal characteristics, and therefore, ought to be accorded equally to all. Finally, the respect that we promote has both a cognitive dimension (believing that patients have value) and a behavioral dimension (acting in accordance with this belief).

Mapping the human genome: an assessment of media coverage and public reaction.

Objective To document the content and accuracy of discussions about prenatal genetic testing between obstetric providers and pregnant women. Methods The first prenatal visits of 169 pregnant women with 21 obstetricians and 19 certified nurse-midwives were audiotaped and analyzed for whether a discussion of family history or genetic testing took place and if so, its length, content, and accuracy. Results Family history was discussed in 60% of visits, maternal serum marker screening in 60%, second-trimester ultrasonography for fetal anomalies in 34%, and for women at least 35 years old, amniocentesis or chorionic villus sampling (CVS) in 98%. The length of discussions of genetic testing averaged 2.5 minutes for women younger than 35 years of age and 6.9 minutes for older women. Topics discussed most often were the practical details of testing, the purpose of testing, and the fact that testing is voluntary. Discussions seldom were comprehensive. Obstetricians were more likely to make a recommendation about testing than were nurse-midwives and were less likely to indicate that testing is voluntary. Most women were satisfied with the amount of information, and the majority of women of advanced maternal age had made a decision about amniocentesis or CVS by the end of the visit. Conclusion The information about genetic testing provided in the first prenatal visit is inadequate for ensuring informed autonomous decision-making. Guidelines addressing the content of these discussions should be developed with input from obstetricians, nurse-midwives, genetic counselors, and pregnant women.