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

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

Genomic achievements since the Human Genome Project. ED Green et al. Nature 470, 204-213 (2011) doi:10.1038/nature09764

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

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

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

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

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

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, 204-213 (2011) doi:10.1038/nature09764

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.

Some Companies and Specialized Organizations

23andme

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

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

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

KNOME Knome interprets human genomes for pharmaceutical and clinical researchers.

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

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

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?

An Agenda for personalized Medicine Nature 461, 724-726 (8 October 2009)

Comparison of disease predictions of 23andme and navigenics

Results 5 individuals surveyed Significant disagreement in risk for many diseases

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

Ethics guidelines

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

Nuffield foundation, Wellcome Trust, Medical Research Council. British