19th century20th century 21st century (Flemming, 1882) Where is genetics headed?

19th century 20th century

21st century

(Flemming, 1882)

Where is genetics headed?

personal genetics education project

Genome sequencing: Past, Present, Future

• Human Genome Project: 13 years, 2.7 billion

• Nobel Laureate James Watson: 2 years, 2 million

• DecodeMe, 23andMe, Navigenics: A “genome scan” (SNP analysis, $1,000-$3,000, results in a few weeks)

• Personal genome sequence: A Human Genome Project performed on YOU:

Goal: 1-5 years, under $1000


What is a personal genome sequence?

• An analysis of all your genes

• Looks for mutations and differences in your genome

• Like taking all current and future genetic tests simultaneously

• A Human Genome Project performed on YOU.


Why would you do this?

• Improved medical care: ideas for more tests and interventions

• Medicines tailored to your body

• Motivation to change habits

• Simply want to know as much as they can about their health and genetic makeup

• Long term medical and financial planning

• Early adopters and information altruists

• Reproductive decisions


Personal genomes: what are the challenges?

• Privacy concerns for individual and families

• Discrimination fears for insurance and workplace

• Unknown psychological impact on those being sequenced

• Technology ahead of the clinical usefulness in most cases

• Fair weight given to environmental & social factors?

• How to ensure access for all who want to be sequenced?

• Surprises and secrets revealed

• How realistic are promises of anonymity?


Psychological questions in genetic testing

How do individuals feel and act when they learn about their genetic risk for:

Breast, ovarian and colon cancer?

Alzheimer’s Disease?

Huntington’s Disease?


Psychological impact of genetic testing: What do we know?

•Breast, Ovarian and Colon Cancer: Overall testing had no impact on general and specific distress, anxiety or depression in carriers and non-carriers

•Some cases showed a short term (4 months or less) increase in stress among carriers

•Breast cancer mutation carriers increase their screening behaviors more often than ovarian and colon mutation carriers

•Psychological response likely tied to their general outlook and mental state before testing

Other considerations:

• People may not fully understand the results and concept of “risk”

• Those who seek out and enroll in genetic testing studies may be a self- selecting group that is more prepared for the results than the average person.

Findings from “ A systemic review of perceived risks, psychological and behavioral impacts of genetic testing” Heshka etc all, Jan. 2008


Psychological and behavioral impact of genetic testing: Alzheimer’s Disease

• Why would people want to know? Organize personal affairs, hope for treatment, arrange long-term care, prepare family, stop procrastinating, and relief if found to be a non-carrier.

• What actions are taken as a result of a positive test? 17% changed their long-term care insurance (only 2% of the negative group and 4% of control group did the same).

53% changed at least one health-related behavior to reduce their risk (24% of negative group reported a change, 31% of control group did the same)

• What is the psychological impact? No significant long term psychological differences in post-test results, regardless of what the result was.

From “ Genetic Risk Assessment for Adult Children of People with Alzheimer’s Disease: The Risk Evaluation and Education for Alzheimer’s Disease (REVEAL) Study” , JS Scott etc al, 2005.


Psychological impact of genetic testing: Huntington’s Disease

• Why would people want to know? To be certain, to plan for the future, and to inform children

• Only between 9-20% of at risk people chose to be tested. Those who decline testing cite fear of searching for symptoms and wanting to retain a sense of hope for being free of the mutation. Also mention increase risk to children if found to be a carrier, absense of a cure, loss of health insurance

• Carriers and non-carriers differ in the short term most noticably: Carriers report higher psychological distress and feelings of hopelessness in the weeks and months after testing. No significant difference in long-term psychological impact.

• Psychological state before the testing was the best indicator of how individuals would respond to learning their carrier or non-carrier status.

•From “ Psychological impact of genetic testing for Huntington’s disease: an update of the literature”, Meiser and Dunn, 2000.


What are the big questions?

• How will people respond to what might be “out of the blue” information?

• Will knowing about certain risks or traits change how we think of ourselves, our histories and our futures?

• What actions, if any, will people take once they learn their genomes?

What would the debate in your family look like?


Mom the worrier

You

Crazy Uncle Bill

Skeptical brotherEarly adopter brother

Dad already signed up to get sequenced

Grandpa says no way!

Aunt Erma worried about losing her insurance because of her son’s DNA sequence

Uncle Fred wants to donate his sequence to science and make it totally public

Grandma is gone, but a sample of her DNA still exists…

Documents

19th century20th century 21st century (Flemming, 1882) Where is genetics headed?