Nancy Press

Why women say yes to prenatal diagnosis

Despite considerable concern of bioethicists, disabilities rights activists, feminists and others about the spread of prenatal diagnostic technologies, their routine acceptance in many parts of the world continues at a rapid pace. Yet, there is wide variation by country and region in rates of acceptance of prenatal diagnosis. We draw on John McKinlays model of how a medical innovation becomes routinized to explore the circumstances that led to the widespread use of one prenatal diagnostic screen-the maternal serum alpha fetoprotein (MSAFP) test for the detection of neural tube defects and other developmental disabilities. As predicted by McKinlays model, analysis of published data suggests that strong institutional or provider support is the best predictor of womens level of MSAFP test acceptance. Data collected at a health maintenance organization in California illuminate the processes through which medico-legal and institutional forces affect the use of MSAFP screening. By examining the language women use to talk about MSAFP screening, we show how providers also shape womens understandings of the meaning and purpose of MSAFP screening. These data ultimately shed light on how the very ethical issues which concern critics of prenatal diagnosis become obscured in the processes by which this screening test becomes accepted as routine.

Recommendations for Returning Genomic Incidental Findings? We Need to Talk!

The American College of Medical Genetics and Genomics recently issued recommendations for reporting incidental findings from clinical whole-genome sequencing and whole-exome sequencing. The recommendations call for evaluating a specific set of genes as part of all whole-genome sequencing/whole-exome sequencing and reporting all pathogenic variants irrespective of patient age. The genes are associated with highly penetrant disorders for which treatment or prevention is available. The effort to generate a list of genes with actionable findings is commendable, but the recommendations raise several concerns. They constitute a call for opportunistic screening, through intentional effort to identify pathogenic variants in specified genes unrelated to the clinical concern that prompted testing. Yet for most of the genes, we lack evidence about the predictive value of testing, genotype penetrance, spectrum of phenotypes, and efficacy of interventions in unselected populations. Furthermore, the recommendations do not allow patients to decline the additional findings, a position inconsistent with established norms. Finally, the recommendation to return adult-onset disease findings when children are tested is inconsistent with current professional consensus, including other policy statements of the American College of Medical Genetics and Genomics. Instead of premature practice recommendations, we call for robust dialogue among stakeholders to define a pathway to normatively sound, evidence-based guidelines.Genet Med 15 11, 854–859.Genetics in Medicine (2013); 15 11, 854–859. doi:10.1038/gim.2013.113

'Because of the risks': how US pregnant women account for refusing prenatal screening

Most research on prenatal fetal testing in general, and maternal alpha-fetoprotein (AFP) screening in particular, has focused on women who accept and even actively seek prenatal diagnosis. Much of this work suggests that agreeing to prenatal diagnosis is inextricably linked to the processes associated with the medicalization of reproduction and that most women do not see refusal as an option. In contrast, little attention has been paid to women who decline fetal diagnosis. Instead, it is generally assumed that women who do so are resisting this thrust toward medicalization and/or are opposed to abortion. Our research is designed to address this imbalance. We analyze how a group of US women who refused the offer of AFP screening account for their decisions and compare their explanations with those of women who took the test. Contrary to our expectations, we found that refusal did not signify rejection of and/or resistance to the offerings of science and technology. Rather, women who refused often employed biomedical categories, particularly the concept of risk, to reject its very offerings. Furthermore, refusers and acceptors were more alike than different in their views on abortion, medicalization and pregnancy. We conclude that the key difference between the two groups lies in their interpretation and application of biomedical concepts and modern risk-assessment.

Hemochromatosis and Iron Overload Screening (HEIRS) study design for an evaluation of 100,000 primary care-based adults.

BackgroundThe HEIRS Study will evaluate the prevalence, genetic and environmental determinants, and potential clinical, personal, and societal impact of hemochromatosis and iron overload in a multiethnic, primary care-based sample of 100,000 adults over a 5-year period. Participants are recruited from 5 Field Centers. Laboratory testing and data management and analysis are performed in a Central Laboratory and Coordinating Center, respectively. MethodsParticipants undergo testing for serum iron measures and common mutations of the hemochromatosis gene (HFE) on chromosome 6p and answer questions on demographics, health, and genetic testing attitudes. Participants with elevated values of transferrin saturation and serum ferritin and/or C282Y homozygosity are invited to undergo a comprehensive clinical examination (CCE), as are frequency-matched control subjects. These examinations provide data on personal and family medical history, lifestyle characteristics, physical examination, genetic counseling, and assessment of ethical, legal, and social implications. Primary and secondary causes of iron overload will be distinguished by clinical criteria. Iron overload will be confirmed by quantification of iron stores. Recruiting family members of cases will permit DNA analysis for additional genetic factors that affect iron overload. ResultsOf the first 50,520 screened, 51% are white, 24% are African American, 11% are Asian, 11% are Hispanic, and 3% are of other, mixed, or unidentified race; 63% are female and 37% are male. ConclusionsInformation from the HEIRS Study will inform policy regarding the feasibility, optimal approach, and potential individual and public health benefits and risks of primary care-based screening for iron overload and hemochromatosis.

Women's interest in genetic testing for breast cancer susceptibility may be based on unrealistic expectations

We report on results of an interview study assessing womens attitudes toward and hypothetical interest in genetic susceptibility testing for breast cancer. Data are from 246 interviews with women of varying ethnicity (African American, European American, Native American, and Ashkenazi Jewish), family history of breast cancer (negative, positive, and borderline), and educational level. Semistructured interviews included questions on general health beliefs; attitudes, experiences, and concerns about breast cancer; and hypothetical interest in genetic testing. Influence of specific test characteristics was assessed with 14 Likert scales varying negative and positive predictive value, timing of disease, possible medical interventions following a positive result. Results reported include both statistical and qualitative analysis. We found that women had a high level of interest in testing which, in general, did not vary by ethnicity, level of education, or family history. Interest in testing appeared to be shaped by an exaggerated sense of vulnerability to breast cancer, limited knowledge about genetic susceptibility testing, and generally positive views about information provided through medical screening. However, study participants were most interested in a test that didnt exist (high positive predictive value followed by effective, noninvasive, preventive therapy) and least interested in the test that does exist (less than certain positive predictive value, low negative predictive value, and limited, invasive, and objectionable therapeutic options). Our data suggest that without a careful counseling process, women could easily be motivated toward interest in a test which will not lead to the disease prevention they are seeking.

Genetics in Primary Care: A USA Faculty Development Initiative

The Genetics in Primary Care (GPC) project is a USA national faculty development initiative with the goal of enhancing the training of medical students and primary care residents by developing primary care faculty expertise in genetics. Educational strategies were developed for the project by an executive committee with input from an advisory committee, comprising individuals with primary care, medical education and genetics expertise. These committees identified the key issues in genetics education for primary care as (1) considering inherited disease in the differential diagnosis of common disorders; (2) using appropriate counseling strategies for genetic testing and diagnosis, and (3) understanding the implications of a genetic diagnosis for family members. The group emphasized the importance of a primary care perspective, which suggests that the clinical utility of genetic information is greatest when it has the potential to improve health outcomes. The group also noted that clinical practice already incorporates the use of family history information, providing a basis for discussing the application of genetic concepts in primary care. Genetics and primary care experts agreed that educational efforts will be most successful if they are integrated into existing primary care teaching programs, and use a case-based teaching format that incorporates both clinical and social dimensions of genetic disorders. Three core clinical skills were identified: (1) interpreting family history; (2) recognizing the variable clinical utility of genetic information, and (3) acquiring cultural competency. Three areas of potential controversy were identified as well: (1) the role of nondirective counseling versus shared decision-making in discussions of genetic testing; (2) the intrinsic value of genetic information when it does not influence health outcomes, and (3) indications for a genetics referral. The project provides an opportunity for ongoing discussion about these important issues.

Characteristics of women who refuse an offer of prenatal diagnosis: Data from the California maternal serum alpha fetoprotein blood test experience

This paper presents data from the California maternal serum alpha fetoprotein (MSAFP) program in order to explore the effect and interaction of various factors, especially ethnicity, abortion history and attitudes, religion, and religiosity on MSAFP test decision. The intent is to describe which women are more likely to reject MSAFP screening and also to understand the reasons for refusal and the meanings associated with it. We obtained data on sociodemographics and reproductive history from 595 obstetrical patient charts; we conducted semistructured interviews with an additional 158 pregnant women who were European-American, English-speaking Latina, or Spanish-speaking Latina. All of the women had been offered screening within the context of Californias MSAFP Program. We found that women who had never terminated a pregnancy, Spanish-speaking Latinas, and women who scored high on a religiosity scale were significantly more likely to refuse testing. However, we found that all of those factors were strongly mediated by the effects of ethnicity and acculturation, producing different patterns of association in different groups of women.

Oregon Physicians' Perceptions of Patients Who Request Assisted Suicide and Their Families

In 1997, the Oregon Death with Dignity Act was enacted, allowing a physician to prescribe a lethal dose of medication for a competent, terminally ill patient who requests one. In 2000, we conducted single, semistructured, in-depth, face-to-face interviews with 35 Oregon physicians who received a request for a lethal prescription. The interviews focused on physicians perceptions of patients who requested assisted suicide, the reasons for the request, and the reactions of their families. The interviews were audiotaped, transcribed, and analyzed using qualitative techniques. Physicians described requesting patients as having strong and vivid personalities characterized by determination and inflexibility. These individuals wanted to control the timing and manner of death and to avoid dependence on others. These preferences reflected long-standing coping and personality traits. Physicians perceived that these patients viewed living as purposeless and too effortful, and that they were ready for death. The requests, which were forceful and persistent, could occur at any point after diagnosis of the terminal illness, and were paralleled by refusal of medical interventions including palliative treatments. Many family members were reluctant to support these requests until they recognized the strength of the preference.

Genetic assessment of breast cancer risk in primary care practice

Family history is increasingly important in primary care as a means to detect candidates for genetic testing or tailored prevention programs. We evaluated primary care physicians skills in assessing family history for breast cancer risk, using unannounced standardized patient (SP) visits to 86 general internists and family medicine practitioners in King County, WA. Transcripts of clinical encounters were coded to determine ascertainment of family history, risk assessment, and clinical follow‐up. Physicians in our study collected sufficient family history to assess breast cancer risk in 48% of encounters with an anxious patient at moderate risk, 100% of encounters with a patient who had a strong maternal family history of breast cancer, and 45% of encounters with a patient who had a strong paternal family history of breast and ovarian cancer. Increased risk was usually communicated in terms of recommendations for preventive action. Few physicians referred patients to genetic counseling, few associated ovarian cancer with breast cancer risk, and some incorrectly discounted paternal family history of breast cancer. We conclude that pedigree assessment of breast cancer risk is feasible in primary care, but may occur consistently only when a strong maternal family history is present. Primary care education should focus on the link between inherited breast and ovarian cancer risk and on the significance of paternal family history. Educational efforts may be most successful when they emphasize the value of genetic counseling for individuals at risk for inherited cancer and the connection between genetic risk and specific prevention measures.

Ethical issues in identifying and recruiting participants for familial genetic research.

Family‐based research is essential to understanding the genetic and environmental etiology of human disease. The success of family‐based research often depends on investigators ability to identify, recruit, and achieve a high participation rate among eligible family members. However, recruitment of family members raises ethical concerns due to the tension between protecting participants privacy and promoting research quality, and guidelines for these activities are not well established. The Cancer Genetics Network Bioethics Committee assembled a multidisciplinary group to explore the scientific and ethical issues that arise in the process of family‐based recruitment. The group used a literature review as well as expert opinion to develop recommendations about appropriate approaches to identifying, contacting, and recruiting family members. We conclude that there is no single correct approach, but recommend a balanced approach that takes into account the nature of the particular study as well as its recruitment goals. Recruitment of family members should be viewed as part of the research protocol and should require appropriate informed consent of the already‐enrolled participant. Investigators should inform prospective participants why they are being contacted, how information about them was obtained, and what will happen to that information if they decide not to participate. The recruitment process should also be sensitive to the fact that some individuals from families at increased genetic risk will have no prior knowledge of their risk status. These recommendations are put forward to promote further discussion about the advantages and disadvantages of various approaches to family‐based recruitment. They suggest a framework for considering alternative recruitment strategies and their implications, as well as highlight areas in need of further empirical research.