discuss the social and ethical considerations of using genetic screening and gene therapy in medicine

Published by Patrick Mutisya · 14 days ago

Cambridge A-Level Biology 9700 – Genetic Technology Applied to Medicine

Genetic Technology Applied to Medicine

Learning Objective

Discuss the social and ethical considerations of using genetic screening and gene therapy in medicine.

Genetic Screening

Genetic screening involves testing individuals or populations for specific genetic variants that may predispose them to disease or affect drug response. It is used for:

  • Pre‑conception carrier testing (e.g., cystic fibrosis, thalassaemia).

  • Newborn screening for metabolic disorders.

  • Predictive testing for adult‑onset conditions (e.g., BRCA1/2 for breast cancer).

  • Pharmacogenomic profiling to tailor drug prescriptions.

Gene Therapy

Gene therapy aims to treat or prevent disease by introducing, removing, or editing genetic material within a patient’s cells. Main approaches include:

  • In vivo delivery of functional genes using viral vectors.

  • Ex vivo modification of patient cells followed by re‑implantation.

  • Genome editing techniques such as CRISPR‑Cas9 to correct pathogenic mutations.

Social Considerations

  1. Access and Equity – Advanced genetic services are often expensive and may be limited to high‑income regions, widening health disparities.

  2. Public Understanding – Misinterpretation of risk can lead to anxiety, stigma, or inappropriate health decisions.

  3. Insurance and Employment – Genetic information could be used to discriminate in insurance premiums or hiring practices.

  4. Population Screening Policies – Decisions about which conditions to include in national programmes raise questions about resource allocation.

  5. Cultural and Religious Beliefs – Some communities may oppose manipulation of the human genome on moral grounds.

Ethical Considerations

IssueKey QuestionsPotential Responses
Informed ConsentHow can patients fully understand complex genetic information?Provide clear, non‑technical counseling; use decision aids.
Privacy and ConfidentialityWho has the right to access an individual’s genetic data?Implement strict data protection laws; limit sharing to authorized healthcare professionals.
Therapeutic vs. EnhancementWhere is the line between treating disease and enhancing traits?Develop regulatory frameworks distinguishing medical necessity from elective enhancement.
Germline ModificationShould changes that can be passed to future generations be allowed?Many jurisdictions prohibit germline editing until safety and societal consensus are achieved.
Justice and Fair DistributionHow can benefits of gene therapy be shared globally?Promote international collaborations and subsidised programmes for low‑resource settings.

Case Study: Newborn Screening for Sickle Cell Disease

Newborn screening programmes identify infants with sickle cell disease early, allowing prompt treatment. While the health benefits are clear, the programme raises issues such as:

  • Potential stigmatisation of carriers.

  • Decisions about informing families of carrier status.

  • Allocation of resources between screening and treatment.

Suggested Diagram

Suggested diagram: Flowchart illustrating the pathway from genetic screening → risk assessment → counseling → possible intervention (e.g., lifestyle change, gene therapy).

Summary

Genetic screening and gene therapy hold great promise for personalized medicine, but their implementation must be guided by robust ethical frameworks and social policies that ensure equity, protect privacy, and respect cultural values.