# Presentation: 883088

## Juggling Participant Privacy, Public Benefit, and Intellectual PropertyThe Brave New World of Genetic Data

**Susan B. Shurin, M.D.**
**Deputy Director**
**National Heart, Lung, and Blood Institute**
**November 3, 2006**

**Juggling Participant Privacy, Public Benefit, and Intellectual Property****The Brave New World of Genetic Data**

## Medical Advances Change History

**Obstetrical forceps**

**Victoria Regina**

## Changing the Course of History

**Changing the Course of History**

- Chamberlen family

- 1600

- 1650

- 1700

- 1750

- 1800

- 1850

**Obstetrical forceps**

**House of Hanover**

## Sharing of Data

**NIH is the steward of the American public’s investment in global health.**
**Information which is not shared represents lost opportunity to improve the health of the public – including negative studies.**
**NIH has been encouraging wide sharing of information, including of published papers, for several years.**

## The Information Glut

**Scientists are now generating far more data than they can analyze.**
**Genetic data, especially related to association with disease states, represents an exquisitely valuable resource.**
**The participants in such research deserve to have their privacy protected, and their contribution maximized.  **

## Genome-Wide Association Studies

**Genome-Wide Association Studies** (GWAS) are:
-  large-scale studies of genetic variation across the human genome;
- designed to identify genetic associations with phenotypic traits (e.g., blood pressure) or disease status.

## Guiding Principle:

**The greatest public benefit will be realized if data from GWAS are made available, under terms and conditions consistent with the informed consent provided by individual participants, in a timely manner to the largest possible number of researchers.**

**Notes:**
Core GWAS Messages
Improve Health – Genome-based research will enable medical science to better understand the health needs of people based on their individual genetic make-up and to prevent, diagnose and treat disease consistent with informed consent of research participants.
Maximize Public Investment – Broad, centralized access allows medical science to get the maximum value from knowledge about the link between genetic data and disease This maximizes the impact of the investment in research on the public health, while maintaining appropriate protections for the privacy and confidentiality of research participants. 

A centralized access process also provides consistency in data handling and security measures which are not available through distributed access procedures. 

## Genome-wide Association Studies (“GWAS”)

**A genome-wide association study (GWAS) is currently defined as any study of genetic variation across the entire human genome that is designed to identify genetic associations with observable traits (such as blood pressure or weight), or the presence or absence of a disease or condition. **
**Both clear phenotype information and extensive genotyping (375-500,000 SNPs) are expensive and labor-intensive.**

## Benefits of the Proposed GWAS Data Repository

**Improve Health: **Better understand the health needs of the public and facilitate the development of improved diagnostic tools and design of new, safe and highly effective treatments.** **
**Maximize Public Investment: **Accelerate the discovery of associations between genetic data and disease, while minimizing research costs.

## Elements of Proposed Policy

**Data Management – **outlines expectations for the submission of data to the proposed GWAS data repository and the processes for secondary investigators to access the data from NIH;
**Publication – **defines a period of publication exclusivity for investigators submitting data;
**Intellectual Property – **encourages patenting approaches that enable both research and the downstream discoveries necessary to develop public health related products.

## GWAS Repository Process

- Access & Secondary
- Use of Data

- Storage and Mgmt. of Data

**GWAS ****data repository**

**Research Participants**

**Informed****consent**

**Research participant identifying information removed, replaced with random unique code **

**Submitting Investigators**

**Recipient****Investigators**

**Coded**
** ****data**

- Collection and Submission of Data

## Proposed Timeline

**Proposed Timeline**

## Questions for Public Consultation

**What are ****potential benefits and risks to research participants**** of sharing phenotypic and genotypic data without  information that would identify research participants? **
**Are ****additional protections needed**** to minimize risks to research participants whose personal identifying information has been removed?**
**What are the ****advantages and disadvantages**** of: **
**A centralized NIH data repository? **
**The proposed approach to data submission? **
**A grace period for scientific publication? **
**The approach to intellectual property?**** **
**What ****specific resources may investigators and institutions need**** to meet the goals of this proposed policy? **

## Google: “GWAS policy”

**Google: “GWAS policy”**

**NIH Public Consultation on**** ****Sharing Genetic Data**

## For More Information  

_**http://grants.nih.gov/grants/gwas/index.htm**_
**GWAS@nih.gov**