The stigma of disease: Implications of genetic screening

doi:10.1016/0002-9343(92)90052-D

The American Journal of Medicine

Volume 93, Issue 2, August 1992, Pages 209-215

https://doi.org/10.1016/0002-9343(92)90052-D Get rights and content

Abstract

As the field of human genetics successfully continues to unravel the secrets of an individual's genetic makeup, the social processes of stigmatization and ostracism of those with “undesirable” traits have the potential to increase. An historical example that may shed light on the problems of applying genetic technology to disease prevention is the institution of quarantine. This essay discusses the concept of “quarantine mentality” and the desire for healthy society to separate itself from those labeled “ill” or abnormal, and addresses two episodes in American history when genetics was applied to the formulation of social policy toward the “diseased”: the eugenics movement of the early 20th century and the early attempts of genetic screening programs for sickle cell anemia during the 1970s.

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Cited by (104)

Stigma of sickle cell disease among Indian tribal population: A multi-centric qualitative study
2023, Journal of the National Medical Association
Sickle Cell Disease (SCD) is the most prevalent hemoglobinopathy, impacting around 5% of the global population. The Indian tribal population, which has been a key focus of the Indian SCD program, can experience health-related stigma due to the multidimensional impact of the disease. This preliminary qualitative inquiry delves into the lived experiences of individuals and synthesizes domains to identify the sources of stigma.
The study's framework for developing the stigma tool was rooted in Bronfenbrenner's Ecology of Human Development. The study was implemented in five tribal-dominated districts of India and involved in-depth interviews with sickle cell disease (SCD) patients and their caregivers to explore their stigmatizing experiences.
The analysis revealed four overarching themes and several subthemes explaining the type of stigma, its source, and factors contributing to stigmatization. First, the study focused on elements associated with perceived stigma, such as disclosure, self-isolation/refusal to participate, and self-judgment. The second theme pertained to the internalization of stigma. The third theme addressed experienced stigma concerning the disease's impact on day-to-day events, and the fourth theme explored the support system patients needed. The framework highlighted the varying degrees of stigmatizing components within different aspects of patients' ecology.
Our study highlights the importance of addressing stigma at various levels. Policies, programs, and healthcare interventions must target stigma across these levels. Culturally adaptive tools for identifying stigma, implementing appropriate interventions, and improving healthcare participation are essential for enhancing the quality of life and reducing the disease burden.
Returning Individual Research Results to Vulnerable Individuals
2022, American Journal of Pathology
Although issues associated with returning individual research results to study participants have been well explored, these issues have been less thoroughly investigated in vulnerable individuals and populations. Considerations regarding return of research results to these individuals and populations, including how best to ensure truly informed consent, how to minimize the risks and benefits of the return of research results, and how best to ensure justice may differ from those of the population at large. This article discusses the issues and challenges associated with the return of individual research results (such as genomic, proteomic, or other biomarker data) to potentially vulnerable individuals and populations, including those who may be vulnerable for cognitive, communicative, institutional, social, deferential, medical, economic, or social reasons. It explores factors that should be considered in the design, conduct, and oversight of ethically responsible research involving the return of research results to vulnerable individuals and populations and discuss recommendations for those engaged in this work.
A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants
2020, American Journal of Human Genetics
Citation Excerpt :
Families advised that they felt comfortable with the information provided by the research nurses to make an informed decision to enroll for symptom-driven diagnoses and whether to opt in for incidental results. These findings are especially important as genomic testing is in its infancy, and its use in the intensive care setting has been somewhat controversial.27–29 Of note, this study did not return variants of unknown significance (VUSs) or perform analyses to identify secondary findings.
Rapid diagnostic genomic sequencing recently became feasible for infants in intensive care units (ICUs). However, research regarding parents’ perceived utility, adequacy of consent, and potential harms and benefits is lacking. Herein we report results of parental surveys of these domains from the second Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT2) study, a randomized, controlled trial of rapid diagnostic genomic sequencing of infants in regional ICUs. More than 90% of parents reported feeling adequately informed to consent to diagnostic genomic sequencing. Despite only 23% (27) of 117 infants receiving genomic diagnoses, 97% (156) of 161 parents reported that testing was at least somewhat useful and 50.3% (88/161) reported no decisional regret (median 0, mean 10, range 0–100). Five of 117 families (4.3%) reported harm. Upon follow-up, one (1%) confirmed harm to child and parent related to negative results/no diagnosis, two (2%) reported stress or confusion, and two (2%) denied harm. In 81% (89) of 111 infants, families and clinicians agreed that genomic results were useful. Of the families for whom clinicians perceived harm from genomic testing, no parents reported harm. Positive tests/genomic diagnosis were more frequently perceived to be useful by parents, to benefit their infant, and to help manage potential symptoms (p < .05). In summary, the large majority of parents felt that first-tier, rapid, diagnostic genomic sequencing was beneficial for infants lacking etiologic diagnoses in ICUs. Most parents in this study perceived being adequately informed to consent, understood their child’s results, and denied regret or harm from undergoing sequencing.
Attitudes towards Genetic Information Delivered by High-Throughput Sequencing among Molecular Geneticists, Genetic Counselors, Medical Advisors and Students in France
2020, European Journal of Medical Genetics
Citation Excerpt :
Previous ethical opinions have put an emphasis on potential harmful effects carrier screening might have on couples and the risks of stigmatization and discrimination. Concerns of stigma have been documented in the past for early mass screening programs (Markel, 1992), but the link with current expanded carrier screening has yet to be established. Increased levels of anxiety, albeit relatively low and temporary, have also been observed (Lakeman et al., 2008).
High-throughput sequencing technologies performed in the clinical setting have the potential to reveal diverse genetic information. Whether it is initially targeted or unsolicited, strictly medical or not, or even information on a carrier status as part of preconception screening, access to genetic information needs to be managed. The aim of the current study was to gather potential attitudes of various stakeholders towards the sharing of genetic information from next-generation sequencing, and more specifically towards incidental findings, predictive findings, non-medical information and carrier status. Answers from a total number of 1631 individuals belonging to four different groups (45 molecular geneticists, 65 genetic counselors, 56 medical advisors to the state insurance plan, and 1465 university students) were collected through online questionnaires. Overall, the study reflects preferences towards the return of health risks related to serious diseases when effective treatment is available and information on reproductive risks. The importance of the perceived medical utility, both for disease prevention and treatment, was the main distinguishing feature. Attitudes from genetic health professionals were found more reluctant to receive a wide range of information. Hands-on experience with the practice of genetic testing is likely to influence perception of the utility of the genetic information that should be delivered. At the same time, perceptions of preconception genetic carrier screening brought out less differences between participants. Better understanding of the underlying interest in genomic information and thorough education on its value and usage are key elements to the adoption of future guidelines and policy that respect bioethical principles.
Genomic Perspective of Genetic Counseling
2016, Medical and Health Genomics
With falling costs, genomic sequencing tests are likely to replace or supplement many single gene tests in the coming years. Despite the complexity of genomic tests, many aspects of genetic counseling, such as the centrality of family history, will remain the same for genomic tests as they were for genetic tests. The counseling issues, like coping with uncertainty, are also largely familiar. New challenges relate to scale; the ability to test a large number of genes simultaneously raises questions about how to feasibly obtain informed consent and manage secondary findings and the high numbers variants of unknown significance. The ability to easily reanalyze stored genomic data, for either clinical or research purposes, raises novel dimensions of privacy and confidentiality. Finally, the use of genomic testing by healthy individuals to learn and manage risks to future health requires consideration of how this may be accommodated within a genomic counseling framework.
Targeted carrier screening for four recessive disorders: High detection rate within a founder population
2015, European Journal of Medical Genetics
In a genetically isolated community in the Netherlands four severe recessive genetic disorders occur at relatively high frequency (pontocerebellar hypoplasia type 2 (PCH2), fetal akinesia deformation sequence (FADS), rhizomelic chondrodysplasia punctata type 1 (RCDP1), and osteogenesis imperfecta (OI) type IIB/III. Over the past decades multiple patients with these disorders have been identified. This warranted the start of a preconception outpatient clinic, in 2012, aimed at couples planning a pregnancy.
The aim of our study was to evaluate the offer of targeted genetic carrier screening as a method to identify high-risk couples for having affected offspring in this high-risk subpopulation.
In one year, 203 individuals (92 couples and 19 individuals) were counseled. In total, 65 of 196 (33.2%) tested individuals were carriers of at least one disease, five (7.7%) of them being carriers of two diseases. Carrier frequencies of PCH2, FADS, RCDP1, and OI were 14.3%, 11.2%, 6.1%, and 4.1% respectively. In individuals with a positive family history for one of the diseases, the carrier frequency was 57.8%; for those with a negative family history this was 25.8%. Four PCH2 carrier-couples were identified.
Thus, targeted (preconception) carrier screening in this genetically isolated population in which a high prevalence of specific disorders occurs detects a high number of carriers, and is likely to be more effective compared to cascade genetic testing. Our findings and set-up can be seen as a model for carrier screening in other high-risk subpopulations and contributes to the discussion about the way carrier screening can be offered and organized in the general population.

View all citing articles on Scopus

¹: Dr. Markel is the recipient of a National Research Service Award sponsored by the Ethical. Legal and Social Implications of the Human Genome Initiative Program, National Center for Human Genome Research, National Institutes of Health (Grant 1 F32 HG00037-01).

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Special articleThe stigma of disease: Implications of genetic screening

Abstract

The tempest (Act II, Scene i)

AIDS. From social history to social policy

Priorities in professional ethics and social policy for human genetics

JAMA

Proceed with caution: predicting genetic risks in the recombinant DNA era

Dangerous diagnostics: the social power of biological information

An introduction to the infectious and communicable diseases of childhood

A history of public health

Cristofano and the plague

Public health and the medical profession in the Renaissance

Quarantine and the problem of AIDS

Milbank Q

Quarantine and the problem of AIDS

Milbank Q

The genetic revolution

Analysis of America's modern melting pot

Strangers in the land: Patterns of American nativism, 1860–1925

Inquiries into the human faculty and its development

In the name of eugenics: genetics and the uses of human heredity

Eugenics: its definition, scope and aims

Am J Sociol

Charles Benedict Davenport and the irony of American eugenics

Genetics and American society

Eugenics: hereditarian attitudes in American thought

Strangers in the land

Genetics and American society

Eugenics

Ancestors and immigrants: a changing New England tradition

Charles Benedict Davenport and the irony of American eugenics

Report of the Committee on Eugenics

American Breeder's Magazine

The Eugenics Record Office at Cold Spring Harbor, 1910–1940

On eugenics

Special article
The stigma of disease: Implications of genetic screening