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Genetic Research in Dementia: Risk Evaluation & Education for Alzheimer’s Disease. Supported by grants from: National Human Genome Research Institute (ELSI) HG/AG-02213 (The REVEAL Study); National Institute on Aging AG-09029 (The MIRAGE Study) and AG-13846 (BU Alzheimer’s Disease Center).

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genetic research in dementia risk evaluation education for alzheimer s disease
Genetic Research in Dementia:Risk Evaluation & Education for Alzheimer’s Disease

Supported by grants from:

National Human Genome Research Institute (ELSI) HG/AG-02213 (The REVEAL Study);

National Institute on Aging AG-09029 (The MIRAGE Study)

and AG-13846 (BU Alzheimer’s Disease Center)

Scott Roberts, PhD1

Robert C. Green, MD, MPH1,2

Departments of Neurology1 and Medicine2 (Genetics Program)

Alzheimer’s Disease Center

Boston University School of Medicine

alzheimer s disease public health
Alzheimer’s Disease & Public Health
  • AD is the most common cause of dementia among people age 65 and older.
  • An estimated 4.5 million in the US currently have AD.
  • Annual costs estimated at $100 billion
  • High caregiver burden (“death by a thousand subtractions”)
  • By 2050, 13.2 million older Americans are expected to have AD if current demographic trends continue and no preventive treatments become available.

Source: NIA’s “Alzheimer's Disease: Unraveling the Mystery.”

established gene markers for ad
Established Gene Markers for AD

Deterministic Mutations:

Amyloid Precursor Protein (APP)

Presenilin-1 (PS-1)

Presenilin-2 (PS-2)

Susceptibility Polymorphism:

Apolipoprotein E (APOE)

Lendon CL, et al. JAMA 1997;277(10):825-831

apoe genotyping for risk assessment
APOE Genotyping for Risk Assessment

Why should we NOT do risk assessment for Alzheimer’s disease (at least with APOE)?

  • APOE genotype is not a highly accurate marker
  • No progression/prevention intervention available
  • Discrimination or psychological harm may occur
  • Five negative consensus recommendations
apoe genotyping for risk assessment1
APOE Genotyping for Risk Assessment

Why SHOULD we do risk assessment for

Alzheimer’s disease (using APOE)?

  • Define at-risk populations for prevention trials
  • Identify responsive subgroups
  • Respond to clinical requests
  • Develop new “clinical technologies” for
  • susceptibility markers in common disorders
slide7

“I don’t skate where the puck is. I skate to where it’s going.”

- Hockey superstar Wayne Gretzky

risk evaluation education for ad the reveal study
Risk Evaluation & Education for AD (The REVEAL Study)

An Intervention Trial where

Information is the Intervention:

What is the impact of

genetic risk assessment for

adult children of people with AD?

key questions
Key Questions

Who wants to know?

What happens to them?

What do they do?

study protocol
Study Protocol

Enrollment

Education

Blood Draw and Randomization

Risk Disclosure and Counseling using family hx, gender, APOE

Risk Disclosure and Counseling using family hx, gender alone

Follow up (6 weeks, 6 months, 12 months)

baseline demographics by randomization group
Baseline Demographics by Randomization Group

Demographic Characteristic

Control

(N = 51)

Intervention

(N = 111)

52.0 (10.0);

30-76

55.3 (9.0);

37-78

Mean Age, yrs. (SD);

Range

Sex, % female

69.4%

78.4%

90.2%

Race/ethnicity, % White

95.5%

16.7 (2.2);

12-22

Mean yrs of education (SD);

Range

16.8 (2.5);

10-22

Marital status, % married

66.7%

60.8%

No. of affected relatives, %

1

2+

40.5%

59.5%

45.1%

54.9%

Median income bracket

$70K-$99,999

$70K-$99,999

who wants genetic risk assessment
Who Wants Genetic Risk Assessment?
  • 24% of systematically contacted research registry participants enrolled in the RCT
  • 80% of Education Session attendees subsequently proceeded to randomization
  • Age (younger), education (higher), and gender (female) predicted RCT enrollment

Roberts et al., Genetics in Medicine, 2004

test uptake across diseases
Test Uptake Across Diseases

Roberts et al., Genetics in Medicine, 2004

reasons associated with test uptake
Reasons Associated with Test Uptake

Women strongly endorsed more reasons for seeking testing than men, p = .01

Roberts et al., ADAD, 2003

mean depression scores
Mean Depression Scores

Clinically significant depression

mean anxiety scale scores
Mean Anxiety Scale Scores

Clinically significant anxiety

mean impact of event scale scores
Mean Impact of Event Scale Scores

Clinically significant impact

changes in health behaviors
Changes in Health Behaviors

e4+ group > e4- group, p < .05

Most common changes: Adding vitamins (48%)

Changing diet (13%) Exercise (6%)

insurance changes reported at 12 month follow up
Insurance Changes Reported at 12 Month Follow-Up

*

Zick, Mathews, Roberts et al., Health Affairs, 2005

conclusions
Conclusions
  • Genetic risk assessment will become increasingly important part of medical care
  • Alzheimer’s disease and APOE represent an instructive paradigm
  • Need to develop empirically validated methods of disclosing genetic risk information
acknowledgments investigators
Boston University

Robert C. Green, MD, MPH

Tamsen Brown, MS, CGC

Dapo Akinleye, MPH

Lindsay A. Farrer, PhD

L. Adrienne Cupples, PhD

George Annas, JD, MPH

Weill Medical College/Cornell Univ.

Norman R. Relkin, MD, PhD

Lisa Ravdin, PhD

Susan LaRusse, MS, CGC

Beth Chisholm, MS

Elana Cox, MS, CGC

Howard University

Charmaine Royal, PhD

Thomas Obesisan, MD

Grace-Ann Fasaye, ScM

Case University

Peter Whitehouse, MD, PhD

Eric Juengst, PhD

Melissa J. Barber, ScM

Stephen Post, PhD

Indiana University

Kimberly A. Quaid, PhD

University of British Columbia

A. Dessa Sadovnick, PhD

King’s College, London

Theresa Marteau, PhD

Nat’l Human Genome Research Inst.

Barbara Biesecker, MS

Elizabeth Thomson, MS, RN

Duke University

Robert Cook-Deegan, MD

Acknowledgments/Investigators