Genetic Testing & Personalized Medicine

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Questions and Answers

What term refers to individuals who are anticipating a diagnosis but are not confirmed patients?

Participatory patients

Pre-patients (correct)

Underserved individuals

Patients-in-Waiting (correct)

What is 'P4-medicine' primarily focused on?

Examining health policy concerns

Improving genetic discrimination

Addressing the health gap

Enhancing participatory approaches to health (correct)

What health issue is described as affecting individuals in lower socio-economic groups disproportionately?

Lifestyle solidarity

Health gap (correct)

Genetic exceptionalism

Participant empowerment

Which approach emphasizes patient and public involvement in healthcare decisions?

Citizen science Signup and view all the answers

What concept addresses the ethical concerns regarding resource allocation in health care?

Chocolate cake problem Signup and view all the answers

What is a significant concern associated with genetic testing in underserved groups?

Fear of genetic discrimination Signup and view all the answers

What key issue has emerged regarding the individualization of health responsibilities?

Debate on lifestyle solidarity Signup and view all the answers

Which development reflected the shrinking scope of physicians' authority since WWII?

Rising emphasis on shared decision making Signup and view all the answers

What is a primary ethical concern related to genetic testing in personalized medicine?

Right to know or not to know Signup and view all the answers

Which of the following best describes the potential effect of data-rich personalized medicine on power distribution?

Encourages collaborative decision-making Signup and view all the answers

What is a significant concern regarding the control of algorithms in personalized medicine?

Lack of transparency in their development Signup and view all the answers

In the context of personalized medicine, what does 'filter bubble effect' refer to?

Narrowing of perspectives due to tailored information Signup and view all the answers

What is one implication of data transitioning from public to health domains?

Heightened privacy concerns for patients Signup and view all the answers

Which demographic is at risk of social exclusion in the realm of personalized medicine?

Low-income individuals with limited access to technology Signup and view all the answers

What role do patients play in the vision of personalized medicine?

Active contributors of data Signup and view all the answers

What challenge arises from the integration of outside data into the clinical domain?

Potential conflicts with conventional medical evidence Signup and view all the answers

What characterizes the approach of Stratified Medicine?

It is primarily concerned with pathophysiology and treatment strategies. Signup and view all the answers

Which statement best defines the initial focus of Personalised Medicine?

Matching drug treatments to groups based on specific genetic markers. Signup and view all the answers

What distinguishes Precision Medicine from Personalised Medicine?

Precision Medicine uses a wider array of non-genetic data in decision making. Signup and view all the answers

How does the concept of Individualisation in medicine differ from Precision Medicine?

Individualisation considers personal characteristics at every stage of care. Signup and view all the answers

Which is NOT a factor considered in Personalised Medicine?

General population treatment guidelines. Signup and view all the answers

What type of data generation method is highlighted in the context of health-related data?

Online genetic testing and related digital methods. Signup and view all the answers

What is a key critique of Personalised Medicine?

Overemphasis on genomic information. Signup and view all the answers

Which statement accurately describes the role of 'Cure Together' in health-related data?

It serves as a platform for collaborative data analysis among patients. Signup and view all the answers

What fundamental themes are associated with discussions of genetics and society?

Identity, Justice, Participation Signup and view all the answers

Which document is NOT typically associated with the codification of medical ethics?

Human Genome Project Signup and view all the answers

In what decade did the concept of ‘geneticisation’ become prominent in societal discussions?

1990s Signup and view all the answers

What does the term ‘biosociality’ refer to in the context of genetics?

Identity formation around genetic markers Signup and view all the answers

Which area does NOT typically investigate the implications of genetics in society?

Climatology Signup and view all the answers

What was the primary focus of the 3-5% of funding dedicated to ELSI in the Human Genome Project?

Ethical, Legal, and Social Implications Signup and view all the answers

Which of the following best describes ‘enlightened geneticisation’?

The incorporation of genetic information into broader societal narratives Signup and view all the answers

What aspect primarily shaped the adoption of new scientific fields according to social sciences in the context of genetics?

Cultural perceptions Signup and view all the answers

Study Notes

Genetics and Society

Medical ethics emerged primarily through philosophers and physicians; foundational documents include the Nuremberg Code (1949) and Declaration of Helsinki (1964).
The Human Genome Project allocated 3-5% of its funding to explore Ethical, Legal, and Social Implications (ELSI).
Social sciences play a crucial role in assessing societal adoption of new scientific fields, initially approached with skepticism towards normative views.

Identity

Concept of ‘geneticisation’ emerged in the 1990s, evolving into ‘enlightened geneticisation’ and ‘biosociality’ in subsequent years.
Empirical studies indicate that individuals often incorporate genetic information into their existing identities without significant behavioral changes regarding health.
Mixed perspectives in the 2010s:
- Negative aspects highlight the concept of 'Patients-in-Waiting’ and the implications of being a ‘pre-patient.’
- Positive aspects emphasize P4-medicine: participatory, personalized, preventive, and predictive approaches towards healthcare.

Justice

Deborah Stone’s “chocolate cake” metaphor illustrates equitable resource distribution as a primary bioethical concern.
Health disparities exist, with socioeconomically disadvantaged groups facing higher health risks, known as the ‘health gap.’
Concerns about genetic discrimination and individual responsibility, especially in costly predictive testing, have prompted discussions on lifestyle solidarity and the diminishing notion of genetic exceptionalism.

Participation

Shifts in physician authority and expertise have increased since WWII, promoting patient participation in healthcare decisions.
The 2010s saw enhanced opportunities for individuals to generate and analyze health-related data outside clinical settings, facilitated by online genetic testing and community platforms like "Cure Together."

Personalised Medicine & Precision Medicine (PM)

Personalised Medicine originally aimed at aligning drug treatments with specific genetic markers but later incorporated broader data including non-genetic factors.
Alternative Concepts:
- Stratified Medicine focuses on pathophysiology related to treatment.
- Precision Medicine, recognized since 2009, connects data-rich medicine with clinical practice.
- Individualisation highlights tailoring healthcare to individual characteristics.

Autonomy relates to individuals' rights to know or not know about their genetic information.
Ethical concerns extend to family member rights, data protection, discrimination avoidance, and identity impacts.
Emphasis on molecular and digital data raises questions about the inclusion of other evidence types meaningful to patients.

Conclusion: Regulatory Challenges

Data-rich PM emphasizes collaboration, shifting power dynamics, and expertise distribution.
Movement of data between public and health domains has transformed data analysis into a market-driven endeavor.
Patient contributions of data pose significant ethical questions, including who maintains control over personal health repositories and algorithms.
Risks of social exclusion and 'filter bubble' effects further complicate the landscape of personalised medicine.

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Description

Explore the ethical, social, and regulatory challenges of genetic testing and personalized medicine. This quiz covers key topics related to genetics and society, the history and transition to personalized medicine, and the prevalent challenges faced in the field. Test your knowledge on the hot topics and insights presented by Professor Barbara Prainsack.