Ethical Concerns Surrounding Genetic Research - Reading.pdf

Ethical Concerns Surrounding Genetic Research - Reading 19 December 2023 14:38 Source Notes Genetics and human behaviour: the ethical context Key Concerns: Potential misuse of research: The report emphasizes the need for safeguards against using genetic information to discriminate against individual...

Ethical Concerns Surrounding Genetic Research - Reading 19 December 2023 14:38 Source Notes Genetics and human behaviour: the ethical context Key Concerns: Potential misuse of research: The report emphasizes the need for safeguards against using genetic information to discriminate against individuals, manipulate behaviours, or restrict reproductive choices. Genetic determinism: It addresses concerns that research might overemphasize the role of genes in behavior, undermining individual responsibility and free will. Social implications: The report explores the potential social consequences of genetic research, including stigmatization, genetic engineering, and changes in self-understanding. (Nuffield Council, 2002) Recommendations: Open and transparent research: Emphasis on public engagement and transparent communication about research goals, methods, and findings. Robust ethical oversight: Call for independent bodies to review and regulate research, ensuring informed consent and data protection. Policy development: Encouragement for policymakers to consider potential applications of research and develop legal frameworks to address ethical concerns. Education and public dialogue: Importance of educating the public about the science, ethical issues, and societal implications of behavioral genetics. Key Findings: Research in behavioral genetics is still in its early stages, and findings are complex and often inconclusive. Genes clearly influence some aspects of behavior, but environmental factors also play a significant role. Genetic information alone cannot accurately predict individual behavior. Potential benefits of research include improved understanding of behavior, personalized medicine, and development of treatments for mental health conditions. Specific Ethical Issues Discussed: Genetic testing and screening Genetic counselling and informed consent Preimplantation genetic diagnosis and reproductive choices Genetic data privacy and security Use of genetic information in law enforcement and the justice system Overall Message: The report advocates for a balanced approach to research on behavioral genetics. While acknowledging the potential benefits, it urges caution and emphasizes the importance of ethical considerations to protect individual rights and prevent societal harm. The Science of Terrible Men: An Ethical Quandary (Harden, 2021) Introduction: Discusses the ethical dilemma of using scientific research conducted by morally reprehensible individuals. Highlights the example of geneticists who were also eugenicists. The Value of Flawed Research: Argues that even research tainted by unethical practices can hold valuable insights. Emphasizes the importance of understanding human behavior, even if it comes from problematic sources. Navigating the Ethical Minefield: Cautions against using such research to justify discriminatory or unjust actions. Calls for careful consideration of the context and implications of using this type of research. Learning from the Past: Proposes using this research as an opportunity to learn from historical mistakes. Suggests leveraging these insights to build a more equitable and ethical future. Conclusion: Reiterates the need for a nuanced approach to utilizing research from problematic sources. Encourages critical thinking and ethical responsibility in scientific exploration. Large-scale GWAS reveals insights into the genetic architecture of same -sex sexual behavior (Ganna et al., 2019) Introduction: Same-sex sexual behavior occurs in 2-10% of individuals, with some genetic influence suspected. Previous research has been limited by small sample sizes and lack of robustly associated genetic variants. Research questions: Identify genes associated with same-sex sexual behavior. Estimate the genetic contribution to the trait. Understand the biological mechanisms involved. Explore genetic differences between sexes and sexual preferences. Methods: Genome-wide association study (GWAS) in large samples from UK Biobank and 23andMe. Replication analyses in smaller independent samples. Polygenic score analysis to assess overall genetic influence. In-silico follow-up to investigate biological pathways and gene function. Estimation of genetic correlations with other traits. Key findings: Five genome-wide significant loci associated with same-sex sexual behavior, but with small individual effects. All common genetic variants combined explain 8-25% of variation in the trait. Complex genetic architecture with different genetic influences for males and females. Links identified to sex hormone regulation and olfaction. No single genetic continuum from opposite-sex to same-sex preference. Genetic influences differed between sexes, with some loci specific to males and weaker correlations for females. Analysis of different aspects of sexual preference (attraction, behavior, identity) suggested they are influenced by similar genetic factors. Implications: No "gay gene" exists, but multiple genes contribute to same-sex sexual behavior. Genetic influences partly explain the trait, but sociocultural factors also play a role. Findings challenge traditional measures of sexual orientation like the Kinsey scale - suggest a need for more nuanced measures of sexual orientation. Research highlights the need for larger and more diverse samples. Importance of responsible communication and avoiding misuse of genetic information. Reproductive injustice, trans rights, and eugenics PSYC0036 Genes and Behaviour Page 1 Main argument: Reproductive injustice, trans rights, and eugenics (Radi, 2020) Main argument: Trans people are forced to choose between their right to gender identity and their right to sexual and reproductive health. This is due to passive eugenics in the form of: Legal loopholes: Some countries don't require forced sterilisation, but lack policies for fertility preservation or family planning for trans people. Cultural norms: Societal beliefs about gender and reproduction make it difficult for trans people to access reproductive healthcare or be seen as having the right to reproduce. Movement dynamics: Some feminist movements advocating for abortion rights prioritize cis women and exclude trans people, leading to a false dilemma where trans rights are seen as incompatible with women's rights. Context: Argentina's Gender Identity Law is often cited as progressive, but it doesn't address sexual and reproductive rights for trans people. The debate over abortion legalization in Argentina highlighted the need for inclusive language and broader understanding of reproductive rights. Key points: Trans people have diverse reproductive experiences and needs. Eugenic practices can be passive (e.g., lack of policies) as well as active (e.g., forced sterilisation). Intersectionality is crucial for understanding the complex interplay of gender, race, and class in reproductive rights. Reproductive justice frameworks prioritize bodily autonomy and social justice for all people, regardless of gender identity. Call to action: Develop policies and practices that respect the reproductive rights and autonomy of trans people. Promote inclusive and intersectional approaches to sexual and reproductive health and rights. Challenge eugenic narratives and build alliances based on shared values of justice and equality. The Potential of Reproductive Justice: Intersectionality: Acknowledges complex identities and challenges the limitations of single-issue movements. Broader scope: Addresses social and health inequalities impacting reproductive choices, not just abortion and contraception. Welcoming to trans people: Openly inclusive of diverse experiences and perspectives. Key Features of Reproductive Justice: Focus on dismantling systemic inequality: Addresses racism, sexism, poverty, ableism, sexual orientation, and age. Lifespan approach: Works across all public policies affecting reproduction and child-rearing. Holistic perspective: Considers factors beyond individual rights, including freedom of movement, housing availability, and environmental racism. Benefits for Trans Individuals and Society: Access to comprehensive reproductive healthcare: Fertility preservation, family planning, and respectful childbirth support. Dismantling eugenic practices: Challenges passive eugenics through policy changes and promoting inclusive language. Building stronger alliances: Fosters solidarity and collaboration across different communities and movements. Moving Forward: Adopting a reproductive justice framework: Encourages a broader and more inclusive approach to reproductive rights activism. Developing trans-specific policies and programs: Addressing the unique needs and experiences of trans individuals. Promoting dialogue and collaboration: Building bridges between trans communities, feminist movements, and other social justice groups. The End of Behavioural Genetics? Early 20th century: Behavioral genetics was a popular field of study, but its association with eugenics led to its decline. (McGue, 2010) During this period, there was a rise in the use of heritability estimates to justify discriminatory policies such as forced sterilization. Mid-20th century: The field was largely discredited due to the “Blank Slate” model of human nature, which posits that humans are born with no innate predispositions. Twin studies conducted in the 1930s and 1940s found that identical twins raised apart shared more similarities in personality and intelligence than fraternal twins raised together, suggesting a role for genetics in behavior. Latter half of the 20th century: Twin and adoption studies helped reestablish the importance of behavioral genetics. A 1960 study of Danish adoptees found that children raised by adoptive parents who had a history of schizophrenia were more likely to develop the disorder themselves, suggesting a genetic link. Contemporary Behavioral Genetics: Focuses on gene-environment interplay, recognizing that both genes and environment play a role in shaping behavior. Uses research findings to investigate causal hypotheses about how genes and environment interact to influence behavior. Genome-wide association studies (GWAS) are expected to contribute to the field’s future by identifying specific genes associated with complex traits like personality and intelligence. Criticisms of Behavioral Genetics: Some researchers argue that the field is still undervalued and that its findings are often misinterpreted or misused. Concerns exist about the potential for genetic determinism, the idea that our genes predetermine our behavior and limit our free will. Future of Behavioral Genetics: The field is likely to continue to grow and evolve, with new technologies and research methods providing new insights into the complex interplay of genes and environment in shaping human behavior. CRISPR babies – a consideration of the science and ethics PSYC0036 Genes and Behaviour Page 2 Key points: CRISPR babies – a consideration of the science and ethics https://ewanbirney.com/2018/11/crispr-babies-consideration-science-ethics.html (Birney, 2018) Key points: The study lacked transparency, peer review, and rigorous scientific standards. CRISPR editing in embryos raises strong ethical concerns in Europe. Existing techniques, like PGD, can achieve similar outcomes without modifying germline DNA. Tight regulation and public debate are crucial before widespread use in human embryos. Introduction Announcement: Chinese scientists claim CRISPR editing in human embryos. Concerns: Lack of transparency, peer review, and scientific rigor. Purpose: To understand the context and implications. CRISPR Technology Definition: Precise genome editing tool usable across various species. Applications: Basic research, gene therapy in somatic cells (non-reproductive), and potential germline editing in embryos. Safety concerns: Unforeseen consequences of germline editing. Current regulations: Tight controls in Europe, PGD and IVF procedures exist. The Chinese Study Aim: Edit CCR5 gene to protect against HIV transmission (parents had a HIV positive member). Critique: ○ Inappropriate and unethical: ▪ Existing methods (like PGD) can achieve the same goal without germline editing. ▪ Unclear long-term consequences of CCR5 deletion beyond HIV. ▪ Lack of broad ethical and safety discussions. Unnecessary: CRISPR wouldn't be beneficial in most cases where PGD is viable. Future of CRISPR in Human Embryos Potential: Responsible use after extensive animal studies and ethical considerations. Challenges: ○ Ensuring safety and addressing ethical concerns. ○ Developing new regulations and public trust. Conclusion Importance of regulation: Similar to IVF and PGD, CRISPR needs strong legal and ethical frameworks. International examples: UK's Human Fertilization and Embryo Authority provides a model for responsible regulation. Public debate and informed decision-making: Crucial before widespread use of CRISPR in human embryos. Additional Notes: Statistical figures are not included in the article, but the point is made that the vast majority of cases can be addressed with PGD, making CRISPR largely unnecessary. The article acknowledges the rare scenarios where CRISPR might be the only option, but emphasizes their extreme rarity and the need for careful consideration before widespread application. Forget about designer babies – gene editing won’t work on complex traits like intelligence Key Points: https://theconversation.com/forget-about-designer-babies-gene-editing-wont-work-on-complex CRISPR-CAS9: A powerful tool for editing DNA, offering potential for disease treatment and prevention. traits-like-intelligence-51557 Ethical Concerns: Risks of heritable modifications, "designer babies," and unknown consequences. Limitations of Editing: ○ Complex traits: Intelligence, athleticism, etc., have low heritability and complex genetic architectures, (The Conversation, 2015) making manipulation impractical. ○ Single-gene disorders: Editing for simple diseases like beta-thalassemia still raises concerns about offtarget effects and pleiotropy. ○ Unknowns in the genome: Our understanding of gene interactions and environmental influences remains limited. CRISPR's Potential and Risks: Capabilities: Edit, insert, and remove DNA across organisms. Medical applications: Study diseases, test therapies, potentially prevent and treat some disorders. Concerns: Unintended mutations, safety of germline editing (affecting future generations). Misconceptions about "Designer Babies": Enhancement of complex traits (intelligence, athleticism) unlikely: Heritability too low (50-70% on average), meaning environment plays a significant role. Traits influenced by interactions of many genes, making precise editing impossible with current technology. Single-gene disorders: editing comes with caveats: Risk of unintended cuts in other parts of the DNA. Some mutations have beneficial side effects (reduced malaria risk in sickle cell carriers). Why Complex Traits Can't Be "Programmed": Two key criteria for editing complex traits: High heritability (close to 100%) – most traits fall below this threshold. Simple genetic architecture – requiring few mutations, which isn't the case for complex traits. Our environment plays a crucial role: Future environment of the embryo is unknown, making predictions and edits for complex traits inaccurate. Limits of Knowledge and Technology: Gene discovery successes don't translate to complete understanding: Combined effects of all genetic variants remain unclear. Even with perfect knowledge, genetic programming might still be impossible: Human traits are simply not "genetic enough." Calls for Moratorium and Responsible Development: Scientists and bioethicists urge caution: Focus on single-gene disorders and potential adverse consequences before venturing into "designer babies." UNESCO highlights ethical concerns: Calls for a moratorium on heritable modifications and enhancement. Focus on responsible research and development: Advance technology while acknowledging limitations and potential misuse. Conclusion: CRISPR offers tremendous potential for medical advancements, but ethical considerations and realistic limitations around human gene editing should guide its development and application. "Designer babies" for complex traits are far-fetched, and the focus should remain on responsible use for treating and preventing diseases within the boundaries of scientific understanding. Taboo: Genetics Background: Behavioral genetics explores the genetic contributions to human behavior. Certain areas, like intelligence, race, and violence, are considered taboo due to historical misuse and ethical concerns. Stephen Hsu, a theoretical physicist, embarked on a study in 2010 aiming to explain the genetic basis of intelligence by sequencing the DNA of exceptionally intelligent individuals. This study faced significant criticism due to fears of eugenics, ethical concerns regarding the determination of complex behaviours by genetics, and the potential misuse of findings. (Hayden, 2013) PSYC0036 Genes and Behaviour Page 3 the potential misuse of findings. The study aimed to sequence the DNA of 2,000 individuals with high IQs, partnering with the Chinese sequencing powerhouse BGI. However, due to ethical and societal concerns, the project encountered opposition even before substantial data collection began. The study faced intense scrutiny and criticism, especially in four controversial areas of behavioral genetics: intelligence, race, violence, and sexuality. Each area provoked varying degrees of controversy, with concerns about misinterpretation, societal implications, and ethical considerations Methods: The article reviews four specific taboo areas: intelligence, race, violence, and sexuality. It explores the history of research in each area, highlighting key findings and controversies. The article also examines the ethical considerations and potential social implications of research in each area. Results: Intelligence: ○ Studies have identified some weak genetic links to intelligence, but the environment plays a significant role. ○ Concerns remain about eugenics and misuse of the research. ○ Some argue that understanding the genetics of intelligence could be used to improve educational interventions. Race: ○ Genetic differences between populations exist, but they often reflect geographical origins and not inherent racial differences. ○ Research on race and intelligence has been particularly controversial due to its association with racist ideologies. ○ Some argue for a moratorium on such research, while others call for a more transparent and ethical approach. Violence: ○ Genes like MAOA have been linked to vulnerability to violence under certain environmental conditions. ○ However, the research is complex and the findings have been mixed. ○ Genetic testing is sometimes used in court cases, but its impact on sentencing remains limited. ○ Research is moving towards understanding the interplay between genes and environment in influencing violence. Sexuality: ○ Research on the genetics of sexual orientation has become more accepted in recent years. ○ However, research on the epigenetics of homosexuality raises concerns among some activists who fear it could undermine the "hardwiring" theory. ○ The article emphasizes the need for open dialogue and responsible research in all areas of behavioral genetics. Sequencing your genome is becoming an affordable reality – but at what personal cost? (The Conversation, 2015) Background: Genomics, the study of an organism's complete set of genes, revolutionizes modern medicine. Whole genome sequencing maps an individual's entire DNA, unlocking potential for personalized medicine and disease diagnosis. Costs of sequencing have plummeted, making it accessible for both research and clinical applications. Methods: The article discusses various uses of genomics: ○ Rare variant detection: Identifying unique mutations in a patient's genome for diagnosis and treatment. ○ Cancer genomics: Sequencing cancer genomes to understand genomic differences and develop targeted therapies. ○ Pharmacogenomics: Testing for genetic markers to predict drug response and optimize dosage. ○ Direct-to-consumer (DTC) testing: Companies like 23andMe analyse customers' DNA for ancestry, traits, and disease risks. ○ Large-scale research: Sequencing projects like the Personal Genome Project and UK's 100,000 Genomes Project aim to study disease and treatment relationships within large datasets. Results: Genomics offers: ○ Improved diagnostics: More accurate identification of rare diseases and cancer subtypes. ○ Personalized medicine: Tailored treatment strategies based on individual genetic makeup. ○ Drug efficacy: Predicting and optimizing drug response for better patient outcomes. ○ Research advancements: Deeper understanding of disease mechanisms and identification of new therapeutic targets. Critical Analysis: Strengths: ○ The article provides a comprehensive overview of how genomics impacts medicine and research. ○ It highlights both the benefits and challenges of genomic technologies, including ethical concerns about data privacy and discrimination. ○ The piece emphasizes the need for robust privacy regulations and informed consent practices within the genetic testing and research landscape. Limitations: ○ The article focuses primarily on the positive aspects of genomics and underplays potential pitfalls in areas like eugenics and insurance discrimination. ○ It doesn't delve deeply into the technical limitations of sequencing and data analysis, particularly regarding data security and anonymization challenges. ○ The piece could benefit from specific examples of successful personalized medicine applications and real world ethical dilemmas encountered in using genomic data. Can genomic research make a useful contribution to social policy? (Asbury et al., 2022) Background: The article discusses the implications of recent genome-wide association studies (GWAS) that identify specific genetic variants linked to outcomes such as educational attainment, income, and neurodivergence. It focuses on two UK reports: one from the Early Intervention Foundation (EIF) and the other from the Government Office for Science (GO Science). These reports explore the policy implications of using genomic research in social policy, specifically related to education and child development. Methods: The EIF report examines genetic data's potential use in early intervention and social policy, while the GO Science report delves into wider governmental implications of genomics. Both reports utilized workshops with diverse experts to discuss key themes and hypothetical scenarios related to using genetic data in policy-making. Results: PSYC0036 Genes and Behaviour Page 4 Results: EIF Report: ○ Emphasizes the ethical and policy challenges of incorporating genetic data into early intervention. ○ Three key themes emerged: enhancing public understanding, diversifying genomic research samples, and using DNA data to better understand development. ○ Recommendations include public awareness programs and incorporating DNA data collection in longitudinal studies. GO Science Report: ○ Discusses broader implications of genomics for government policies in various sectors like education, employment, and criminal justice. ○ Highlights the high heritability of educational attainment, ethical challenges, and the lack of regulations around genomic testing in the UK education system. ○ Recommends regulation, data protection, and sector-specific assessments for genomic data use in policy. Critical Analysis: Strengths: ○ Comprehensive Exploration: Both reports thoroughly examine the ethical, social, and policy implications of using genetic data in different policy domains. ○ Consensus on Key Issues: Both reports agree on the importance of public understanding of genomics and the need for representative genomic datasets, providing a unified basis for their recommendations. ○ Balanced Recommendations: Recommendations from both reports stress caution, public awareness, and the need for regulations, indicating a balanced and cautious approach to incorporating genomic data in policy-making. Limitations: ○ Genomic Literacy: Public understanding of genetics is low, which could hinder informed public dialogue. There's a need for improved education on modern genetics and genomics. ○ Diversity in Genomic Datasets: The lack of diversity in genomic datasets remains a significant obstacle. Recommendations might not be practical until this diversity deficit is addressed. ○ Regulatory Challenges: Current regulations are insufficient in governing genomic data use, particularly in education. The absence of regulations might lead to potential misuse or ethical issues. Background: The article addresses the underrepresentation of ethnically diverse populations in genetic studies of human diseases. It highlights the limitations and potential dangers of relying primarily on populations of European ancestry in genetic research. The lack of diversity impedes our understanding of the genetic architecture of diseases, leading to inaccurate risk assessments, misdiagnoses, and ineffective interventions in underrepresented populations. The commentary aims to demonstrate why including diverse populations in genetic studies is crucial and discusses challenges and future directions for promoting equity in genomic research. Methods: The study synthesizes evidence from various examples related to the impact of genetic diversity on Mendelian diseases and complex traits. It draws on specific disease cases such as cystic fibrosis, transthyretin amyloid cardiomyopathy, sickle cell disease, and retinal diseases to illustrate how different mutations and genetic modifiers affect disease presentation across diverse populations. The commentary also discusses the implications of genetic diversity on the ability to replicate genetic associations in genome-wide association studies (GWAS), emphasizing the differences in genetic architecture among ethnically diverse groups. Results: Impact of Genetic Diversity on Mendelian Diseases: ○ The article outlines how diverse populations exhibit variations in the prevalence of pathogenic mutations, impacting disease diagnosis and treatment effectiveness. ○ Examples like cystic fibrosis, transthyretin amyloid cardiomyopathy, and sickle cell disease demonstrate how different mutations affect disease severity and response to treatments across populations. ○ It also highlights challenges in identifying pathogenic variants due to locus heterogeneity and gene -gene interactions. Impact of Genetic Diversity on Complex Traits: ○ The study discusses disparities in GWAS, where the majority of studies have been conducted in European and Asian populations, limiting the transferability of findings to other ethnicities. ○ Factors like differences in linkage disequilibrium, genetic architecture, and gene -environment interactions contribute to the lack of replication across populations in GWAS. ○ Polygenic risk scores (PRS) are noted for their limitations in predicting disease risks accurately across diverse populations due to variations in LD and genetic heterogeneity. Significance of Diversity for Pharmacogenetics and Pharmacogenomics: ○ Genetic variations among populations influence drug efficacy and safety, as seen in cases like warfarin dosage variability and G6PD deficiency reactions to certain drugs. ○ The article emphasizes the importance of identifying genetic variants affecting drug metabolism across global populations for accurate drug response predictions. Critical Analysis: Strengths: Comprehensive Examples: The article provides diverse disease examples to illustrate the impact of genetic diversity on disease presentation, treatment response, and diagnosis across different populations. Thorough Examination of Factors: It analyses multiple factors contributing to the lack of replication in GWAS and limitations in translating genetic findings across populations, including LD differences, genetic architecture, and gene-environment interactions. Limitations: Data Representation: The commentary lacks specific statistical data or figures to quantify the extent of replication failures or limitations in diverse populations, which could enhance the strength of its argument. Generalizability: While it highlights the importance of diversity, the commentary may not cover all potential scenarios or diseases affected by genetic diversity. Implications for the Field: The study underscores the urgent need to include ethnically diverse populations in genetic studies to improve disease prediction, treatment efficacy, and overall healthcare quality. It emphasizes the necessity of overcoming challenges in recruiting diverse populations, gaining trust, and investing in infrastructure and professional training in low- and middle-income countries. In conclusion, the article effectively argues for the importance of genetic diversity in research and highlights the critical need to bridge the gap in representation to advance precision medicine and healthcare equity. PSYC0036 Genes and Behaviour Page 5