Sociology: Genomics and society

Question 1

Describe the background of the human genome

Answer 1

• In 1953, James Watson and Francis Crick discovered double helix structure of DNA, revealing molecular basis of genes
• Led to revolutionary advancements in genetic research, such as recombinant DNA technology and genetic engineering in 70’s and 80’s
• By late 1980s, feasibility of sequencing entire human genome was accepeted and planned
• Human genome project (1990-2003) sequenced and mapped all human genes, totalled 3 billion base pairs
• Project identified 20,000 - 25,000 genes

Question 2

What are the historical milestones of the human genome?

Answer 2

• 1953: James Watson and Francis Crick discover the double-helix structure of DNA, revealing the molecular basis of genes and revolutionizing molecular biology1.
• 1973: Stanley Cohen and Herbert Boyer develop recombinant DNA technology, allowing scientists to splice DNA from different organisms, paving the way for genetic engineering2.
• 1990: Human Genome Project (HGP) begins, aiming to map all human genes and their functions.
• 2003: Completion of the HGP provides a comprehensive blueprint of the human genome, foundational for precision medicine.
• 1998: Iceland’s deCODE establishes the first national biobank, linking genetic and health data.
• 2007: UK Biobank launches with 500,000 participants, revolutionizing genomic and epidemiological research.
• 2012: CRISPR-Cas9 genome editing technique is developed, enabling precise gene modifications and expanding synthetic biology applications.
• 2015: U.S. announces the Precision Medicine Initiative (PMI), emphasizing genomic approaches to individualised treatments.
• 2018: FDA approves 23andMe’s direct-to-consumer pharmacogenetic test, advancing consumer-driven drug response insights.
• 2022: NIH’s All of Us program surpasses 500,000 genome sequences, diversifying genomic data for precision medicine.

Question 3

What types of genomic data are available now?

Answer 3

• Genetic sequencing data of entire human genome
• Biobank data of individuals and populations specific genomic data
• Pharmacogenomic data on how genetic variations affect invidual responses to medications
• Individual genome analysis for likelihood of specific conditions with genetic components

Question 4

Describe the key points of the NHS genomics strategy

Answer 4

• Incorporates genomics into routine care (e.g., cancer, rare disease) via Genomic Medicine Service (GMS)
• Tailored treatments based on genetic data to improve patient outcomes, especially in oncology and rare conditions
• Training healthcare staff in genomics to intergrate it into clinical practice
• Promoting public participation and informed consent in genomic research and services
• Ensuring access to genomic services is equitable across different regions and populations
• Managing sensitive genetic data securely while maintaining informed consent

Question 5

Describe the challenges of precision medicine

Answer 5

• High costs: PGx (pharmacogenomic trsting, analaysis of genetic makeup to determine how genes may respond to medicines etc.) diagnostics and personalised treatments
• Risks to universal healthcare principles (e.g. NHS). i.e genomics goes beyond treatment of illness
• Widen health disparities, benefitting more affluent individuals or populations
• Complex systems needed: Evidence curation, expert input, and technical support
• Knowledge gaps: Limited genomic literacy among clinicians
• Limited oversight of the uses of genomic data
• Data privacy issues

Question 6

What are biobanks?

Answer 6

• Biobanks collect and store biological samples such as tissues, blood, and urine
• Researches use these samples to study diseases, develop new treatments, and understand human biology
• Biobanks support personalsied medicine by tailoring treatments to individual genetic profiles (e.g. Genome-Wide Association Study, research approach used to identigy genetic variants associated with specific diseases or traits)
• They enable long-term tracking of health outcomes
• Biobanks aim to maintain strict ethical and legal guidelines to ensure donor privacy and responsible use of samples
• Examples: Public, private or partnership models (e.g., UK biobank)

Question 7

What are the ethical and legal issues associated with biobanking?

Answer 7

• Pharmacogenomic data is highly valuable, donors may see their donation as a ‘gift’ for societal benefit
• Challenges:
  
  • Commercial use vs. original consent
  • Patients and intellectual property rights
  • Broad vs specific consent for long-term use
  • Biobanks often underrepresent non-european populations, leading to potential biases in research outcomes
• Case studies:
  
  • Henrietta Lacks - Cervical cancer cells were taken w/o permission at Johns Hopkins, cells then cultured by George Otto Gey, who created cell line known as HeLa.
  • deCODE Iceland - Uses small homogenous population, public mistrust over DNA sample uses
  • Singapore Biobank

Question 8

Describe biopower

Answer 8

• Practice of modern states to regulate their subjects through ‘explosion of numerous and diverse techniques for achieving the subjugations of bodies and the control of populations’
• Use of genetic data that could lead to new forms of social control and discrimination
• E.g. immunity licenses during pandemic, or creation of ‘personal risk scores’

Question 9

Describe bioethics and genomics

Answer 9

• 4 principles (Beauchamp and Childress):
  
  • Respect for autonomy
  • Beneficence
  • Non-maleficence
  • Justice
• Challenges in genomics:
  
  • Long-term data storage and unanticipated uses
  • Balancing public benefit with private innovation
  • Focus on genetic explanations can overshadow social factors affecting health
  • Dual-use dilemma: Genomic technologies developed for medical research, coould also be misused for harmful purposes e.g. weaponised

Question 10

Describe how genomic data is managed with transparency and public confidence

Answer 10

• Informed consent - Clear communication about how genetic data will be used, ensuring participants understand potential risks and benefits (Bunnik et al., 2015).
• Data Privacy - Ensuring data security to prevent unauthorised access, with transparency about data sharing practices, especially with 3rd parties (Annas, 2009).
• Public Trust - Maintaining confidence by sharing outcomes of genetic research and its applications in real-time, and being open about potential risks (Wendler et al., 2018)
• Policy Oversight - Establishing regulatory frameworks to enforce transparency and protect individuals’ rights (Meyer et al., 2016)

Question 11

What is some of the legislation governing genomics?

Answer 11

• International frameworks:
  
  • UNESCO - Universal Declaration on the Human Genome (1997):Establishes the genome as part of the “common heritage of humanity”; prohibits discrimination based on genetic data.
  • WHO Genomics & Global Health Guidelines: Advocates equitable access, ethical practices, and prioritizing health over profit in genomic applications.
• Key EU Legislation:
  
  • GDPR (2018):Regulates the use of genomic data, categorising it as sensitive personal data requiring strict protection and consent for usage.
  • Clinical Trials Regulation (CTR):Includes provisions for genomic research within drug development while ensuring participant rights and safety.
• U.S. Legislation:
  
  • Genetic Information Nondiscrimination Act (GINA, 2008):Prohibits discrimination in health insurance and employment based on genetic information.
  • FDA Regulations: Oversight on direct-to-consumer genetic testing (e.g., 23andMe) and PGx-based drug approvals.
• UK Regulation:
  
  • Human Tissue Act (2004):Governs the storage and use of human tissue and DNA. Requires consent for biobanking and genomic research.
  • Data Protection Act (2018):Aligns with GDPR in safeguarding genomic data.
• Ethical and Legal Challenges:
  
  • Balancing privacy with the need for large-scale genomic data sharing for research.
  • Regulating the commercialisation and patenting of genetic material.
  • Ensuring equitable access to genomic medicine globally.