1. Personal Genome Sequencing
BI420: Introduction to Bioinformatics
Department of Biology, Boston College

2. Charting a course for genomic medicine from base pairs to bedside
Nature Volume: 470, Pages: 204–213 Date published: (10 February 2011)

3. Genomic achievements since the Human Genome Project.
ED Green et al. Nature 470, (2011) doi: /nature09764

4. The essence of genomics
Comprehensiveness
Scale
Technology development
Rapid data release
Social and ethical implications

5. Imperatives for genomic medicine
Making genomics-based diagnostics routine
Defining the genetic components of disease
Comprehensive characterization of cancer genomes
Practical systems for clinical genomic informatics
The role of the human microbiome in health and disease

6. Bioinformatics and Computational Biology
Data analysis
Data integration
Visualization
Computational tools and infrastructure
Training

7. Education and Training
Primary and secondary education
Public outreach
Healthcare providers’ genetic competencies
Next generation of genomic researchers

8. Genomics and society
Psychosocial and ethical issues in genomics research
Psychosocial and ethical issues in genomic medicine
Legal and public policy issues
Broader societal issues

9. Schematic representation of accomplishments across five
domains of genomics research
How long before we have advances in healthcare?
E D. Green et al. Nature 470, (2011) doi: /nature09764

10. Ethics Issues Discussion
Pros and Cons of Personal Genome Sequencing
Comparative example: nuclear power
Pros: plentiful energy source. Military existence has reduced ground-based war
Cons: destructive pollutant. Long cleanup time.

11. Some Companies and Specialized Organizations

12. 23andme

13. 23andme approach SNP chip. Problem: no legal standards for information
Google

14. SNP chip approach; Works through physicians http://www.navigenics.com
Navigenics
SNP chip approach; Works through physicians

15. Navigenics approach SNP chip.
Problem: no legal standards for information

16. KNOME
Knome interprets human genomes for pharmaceutical and clinical researchers.

17. Knome approach
DECODE story.
Bioinformatics analysis service. Multigenome analysis. Also provide sequencing. Issue: how much value do they provide?

18. Personal Genomes Academic group at Harvard Med
Goal: allow individuals to volunteer their DNA for the purpose of datamining.
Voluntary social change

19. Personal Genomes Research organization.
Personal issues: is it a good idea to give up your DNA even anonymized?
Analogy: Facebook information. How private can it possibly be? Or should we relax our standard for privacy?

20. An Agenda for personalized Medicine
Nature 461, (8 October 2009)

21. Comparison of disease predictions of 23andme and navigenics

22. Results 5 individuals surveyed
Significant disagreement in risk for many diseases

23. Conclusions Recommendations: Monitor behavioral outcomes.
Carry out prospective studies with hundreds to thousands of individuals.
Replicate associations in other ethnicities.
Sequence instead of genotype.

24. Ethics guidelines

25. Genetic Nondiscrimination Act of 2008
The Act prohibits group health plans and health insurers from denying coverage to a healthy individual or charging that person higher premiums based solely on a genetic predisposition to developing a disease in the future. The legislation also bars employers from using individuals' genetic information when making hiring, firing, job placement, or promotion decisions.
Issues: reasonable enforcability, data availability, indirect use, accuracy of disease prediction

26. Nuffield foundation, Wellcome Trust, Medical Research Council. British