# Presentation: 026020

## CDC Genomics Day 2005

- Lessons Learned, Issues to Explore
- A Summary Report and Update on the IOM  Conference on Implications for Genomics and the Public’s Health
**James G. Hodge, Jr., J.D., LL.M.**
- Associate Professor,
- Johns Hopkins Bloomberg School of Public Health
- Executive Director, *Center for Law & Public Health*
*Core Faculty, Berman Bioethics Institute*

## Statement of Tasks 

- Discuss major scientific and policy issues related to genomics
- Examine the major supports for and challenges to the translation of genetic research into population health benefits
- Suggest approaches for the integration of genomic information into strategies for promoting health and preventing disease

## What Underlies the Implications of Genomics for Public Health? 

- Multiple Challenges
- Disciplinary Approaches
- Tools and Interventions
- Interconnected Factors
- Critical Observ-ations &  Goals

## Multiple Challenges

## Disciplinary Approaches 

- Internal Medicine
- Biochemistry
- Psychiatry
- Genetic Counseling
- Public Health Science
- Public Health Practice

- Biotechnology
- Law
- Ethics
- Economics
- Philosophy
- Psychology
- Sociology

## Tools and Interventions for Public Health Improvement

- Science
- Research
- Practice
- Education
- Counseling
- Law
- Ethics
- Economics
- Technology
- Informatics

## Interconnected Factors 

- Human Genomics			Proteomics
- Ecogenetics			Non-human Genomics

## Interconnected Factors 

- Genetic Information	Nutrition/Metabolism
- Behaviors					Diseases
- Medications				Environmental 						Exposures

## Interconnected Factors 

- Clinical Medicine
- 						        Public Health  			  		  	  Practice
- Pharmaceuticals

## Interconnected Factors 

- 	Surveillance			Research
**Testing/****	****	****	****	****	****Vaccination**
**Screening**
- 	**Epi Investigations**		Education

## Critical Observations and Goals 

- 	A series of critical observations and goals pervade these collective disciplines and justify the use of these tools and interventions.

## Critical Observation 

- 	What We Presently Know About the Science of Genetics is Impressive:

## Critical Goal 

- 	What We Need to Know to Effectively Use Genetics to Protect the Public’s Health is Cloudy:

## Critical Observation

- What We Have Now Is Often Perceived as:

## Critical Goal

- What We Want for the Future:

## Critical Goal

- What We Want for the Future:

## Critical Observation

- What a Few Know Concerning the Potential for Genetics in Public Health:

## Critical Goals

- 	Is What Others Who May Benefit from these Advances Should Know:

## Critical Observation

- 	Genetic Testing and Treatment That Are Available to Some:

## Critical Goal

- Should be Available to Others:

## Critical Observation

- What Can Often Influence Objectives and Interventions:

## Critical Goal

- 	Must Not be Funneled Into Inappropriate or Inefficient Programs:

## Critical Goal

- And Must be Allocated Equitably:

## Critical Objective

- What Concerns Many Individuals:

## Critical Objective

- Must Be Addressed Responsibly:

## Ultimate Objective

- 	With these Multiple Challenges, Tools, Interventions, Observations, and Goals, How Do We Know if We’re on Target?

## The Present and Beyond

- 	We Must Be Prepared to Assess  Existing Knowledge, Resources, and Capacity

## The Present and Beyond

- 	And Move Ahead with a Meaningful  Plan That Translates Possibilities into Reality

## Key Lessons

- Genetic Science
- Genetics and Public Health
- Genetics, Information and Behaviors
- Public Health Infrastructure
- Ethical, Legal, and Social Issues

## Key Lessons - Genetic Science

- The genetics revolution is producing an expanding wealth of new information
- Scientific and technological advances in genetics, proteomics, comparative genomics, ecogenetics, toxicogenomics, bioinformatics, and computational biology have the potential to improve public health outcomes

## Key Lessons - Genetic Science

- Multifactor components underlie virtually all genetic conditions.
- Predicting the functional effect of various genetic sequences is critical, but causality is complicated
- Additional research is essential to further identify and validate genetic variants

## Key Lessons – Genetics and Public Health

- Framework for genetic risk assessment for population health research requires  risk identification, characterization, and reduction
- Community-based participatory research can contribute to widespread knowledge and awareness
- Progress is being made to identify and prevent gene-environment interactions with correlating benefits

## Key Lessons – Genetics and Public Health

- Continued research, funding, and education enhance the ability of public health authorities to incorporate genetics into public health
- Existing public health approaches to genetic diseases (e.g., populational screening, universal diagnosis) can at times be inappropriate or inefficient

## Key Lessons – Genetics, Information and Behaviors

- Individual medical behaviors are the  most important factors in public health improvement
- The use of evidence-based methods to substantiate the use of genetic tests is compromised
- Cost effectiveness analysis involving an assessment of opportunity costs can help  determine whether a genetic intervention is over- or under-utilized

## Key Lessons – Genetics, Information and Behaviors

- Lack of integration of genetic technologies into clinical and public health settings impacts the cost-effectiveness of genomic medicine
- Linked, multi-part interventions are needed to promote positive behavioral changes

## Key Lessons – Genetics, Information and Behaviors

- Genomics will expand the opportunities and widen the disparities **~** unbelievable opportunities, unbelievable inequities
- 				William Foege, M.D., M.P.H.

## Key Lessons – Public Health Infrastructure

- Assuring the conditions in which people can be healthy is an objective of an ecological model for public health
- Genetics underlies the essential services and functions of the public health system
- Heterogeneous public health system is not organized to accomplish some goals in genomics and public health

## Key Lessons – Public Health Infrastructure

- Biobanking offers significant benefits, but lack of harmonization and legal, ethical, and social complexities inhibit its full development
- Capacity for public health genomics is keenly tied to the competencies of the members of the public health workforce and academia
- Financing for the provision of genetic tests and services is challenged by payer concerns and mindsets, as well as limitations in existing tests

## Key Lessons – Ethical, Legal, and Social Issues

- Significant concerns of bodily and health information privacy and discrimination are tied to individual interests
- Protection of disease-specific groups and other vulnerable groups are not adequately addressed
- The HIPAA Privacy Rule, which applies to identifiable genetic data, allows public health authorities to collect such data for public health purposes

## Key Lessons – Ethical, Legal, and Social Issues

- Significant additional issues in genetic privacy, such as duty to warn, are increasingly addressed through litigation
- Laws can facilitate (and complicate) access rights of providers and patients to genetic test results

## Key Lessons – Ethical, Legal, and Social Issues

- Fears of discrimination alone (regardless of realities) may sustain need for affirmative antidiscrimination protections
- Stratification invariably leads to discrimination – the objective is to avoid invidious discrimination

## Where to Go From Here? 	Issues to Explore

- Unravel the advances in genetic science and research to identify clearer objectives for public health
- Enhance application of these advances in public health methodology and practice
- Assess infrastructural improvements that are essential to integrating genetics into public health

## Where to Go From Here?

- Fund and develop genetic, medical, and public health research to support and measure improvements in public health outcomes
- Meld social and behavioral research and methods into public health genetics
- Bridge health care and public health practitioners (and others) within an intersectoral public health system

## Where to Go From Here?

- Develop techniques for integrating genetics into public health practice that overcome challenges of limited funding, technology, and knowledge
- Assure access to public health genetics in ways that are equitable and sensitive to existing health disparities
- Translate genetic information within and outside public health programs

## Where to Go From Here?

- Build public trust for public health genetic data collections through attention to culturally-relevant factors and complex legal and ethical issues
- Develop effective public education on public health genetics through targeted audiences, multiple channels, and sufficient exposures
- Assure that the public health workforce and its partners are capable of using genomics in real practice settings

## Where to Go From Here?

- Reform the legal regulatory framework to address issues in public health and genetics:
- Ensure greater access to genetic tests
- Mobilize individuals to use genetic information for individual and communal health
- Better define the conditions for third parties to use identifiable genetic data
- Review and study these and related issues at the intersection of public health and genetics through roundtable discussions, full committee reports, or other long-term efforts

## Conclusions

- Benefits and Risks
- Promise and Reality
- Exceptionalism or Universalism
- Revolution and Renaissance
- Synergies Between Public Health and Genomics

## Potential for Failure

## Desired End

- James G. Hodge, Jr., _Conference report: Implications for genomics and public health_. Personalized Medicine 2005; 1: 1: 23-25.
- 	Available at: _[http://www.futuremedicine. com/](http://www.futuremedicine.com/)__doi/pdf/10.1517/17410541.1.1.23_

- For More Information

*Thank you*