The Human genome project Laura Capps, Danielle Martin, Sarah Mitchell

Connection to Biology 206 Genetics Errors in the process of meiosis can be detected using the HGP Inheritance of traits can be mapped Laura

video https://www.youtube.com/watch?v=F5LzKupeHtw Sarah

The human genome project Primary objective: to produce sequences for human DNA Other objectives Know location and function of genes Identify 20,000-25,000 genes Transfer related technology to private sector Address ethical, legal and social issues from project Demo, Danielle

The human genome project International effort United Kingdom, USA, Japan, France, etc. Time/Cost 13 years: 1990-2003 $3 billion Danielle

Benefits Early detection of genetic diseases Cystic Fibrosis, PKU, congenital heart defects, Alzheimer's, Huntington's Disease Early detection = Early treatment Better understanding of DNA and genetics Connections between humans and other animals Societal Advancement Advances in Medicine: gene therapy Advances in Forensics: DNA identification Advances in Agriculture: livestock breeding Sarah

Benefits (cont.) Economic More jobs needed Test administers Geneticists to explain results Clinical Social Workers Psychologists Return on Government Investment $1 spent = $141 returned Sarah

risks Too much knowledge can be overwhelming Social Ramifications People may not know what to do with it Genetic dispositions don’t always equate to physical manifestations of conditions Large sections of DNA have unknown meanings Social Ramifications Different social treatments by other kids, parents and teachers Privacy Government usage Insurance Companies Danielle

Risks (cont.) Costs Initial Testing Extra Tests to confirm results/check for false positives Hospitals will need extra personnel for test administration and result explanation Danielle

ethics Informed Consent Privacy Genetic terminology can be hard for parents to understand Consent could not be completely informed Privacy What happens to information? Who controls information? Laura

Ethics (cont.) Psychological Economics Government Incurable diseases/disorders Economics Inability to pay for treatment for diseases/disorders Government Mandated screening Laura

Education connections Autism and Other Intellectual Disabilities Deletions/Duplications in same regions Could be basis for genetic cause of autism and other IDs Down Syndrome Genetic basis: Trisomy 21 Early Detection = Early Treatment Therapy Education Laura

Questions for you! Do you think this is an area of research worthy of pursuing? As a parent, after hearing all this information, would you want your child to undergo genetic screening? Would you like to know what your genome says? Sarah

references Mefford, H.C., Batshaw, M.L., & Hoffman, E.P. (2012). Genomics, Intellectual Disability, and Autism. New England Journal of Medicine, 366, 733-43. Goldenberg AJ, Sharp RR. (2012). The ethical hazards and programmatic challenges of genomic newborn screening. JAMA, 307, 461-462. Ormond KE, Wheeler MT, Hudgins L, et al. (2010). Challenges in the clinical application of whole-genome sequencing. Lancet, 375(9727):1749-1751. HGP Website: http://www.ornl.gov/sci/techresources/Human_Genome/elsi/elsi.shtml

References (Cont.) Garavelli, D. (31 March 3013). Genetic markers: The dilemmas of discovering destiny. Retrieved March 31, 2013. http://www.scotsman.com/scotland-on-sunday/scotland/genetic-markers-the-dilemmas-of-discovering-destiny-1-2868005. Carr, J. P. (July 2012). Data Show that Federal Investment in Research Pays Dividends. Retrieved March 31, 2013, from http://www.aibs.org/washington-watch/washington_watch_2012_07.html.