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Georgia Tech School of Biology A $1,000 human genome sequence? Bio@Tech Georgia Tech School of Biology DNA sequencing and genomic medicine Nicholas Volker Bio@Tech Georgia Tech School of Biology Clinical presentation Bio@Tech Georgia Tech School of Biology The case history Born October 2004 First abscess near rectum in 2006, hole (fistula) appears that leaks stool 2007 -symptoms resemble Crohn's disease (IBD), but medical, surgical, diet treatments fail. Colostomy. More fistulas. Sepsis. ER, antibiotics, blood transfusions. 2008 – more inflammation, fistulas, no diagnosis 2009 – By fall, more than 300 days (250 consecutive) at hospital, 100 operations. Out of options, out of clues. Georgia Tech School of Biology The roles Nick's pediatrician Nick's parent (mom or dad) Nick's older sibling Institutional Review Board member Georgia Tech School of Biology Discussion: should Nick's DNA be sequenced? For each of the roles, what questions would the person have? What would he/she want to know? What concerns or worries? Georgia Tech School of Biology The decision: should Nick's DNA be sequenced? What are the odds that his DNA sequence will be useful? What might be learned? What are the financial costs? Who will pay? Who else has a stake in Nick's DNA sequence? Georgia Tech School of Biology Work out a protocol: 1. What should be sequenced: exome, whole genome, or just certain genes? 2. Who gets the results? Privacy and data security? 3. What information should be returned to the family? 4. What should be published and/or publicized? Georgia Tech School of Biology First look at sequencing results Over 16,000 variants (differences from reference genome) Is there a way to sift these variants according to how likely they are to cause Nick's disease? Georgia Tech School of Biology Georgia Tech School of Biology Georgia Tech School of Biology Mutation in the XIAP gene Bio@Tech Georgia Tech School of Biology The XIAP gene Regulation of cell death Regulation of gut immune system X-linked Mutation in gene leads to extremely rare disease called XLP, inability to fight Epstein-Barr virus, death by age 10. Only cure is bone marrow transplant. Nick's copy of gene has one base change: A TGT codon changed to TAT How does this affect Nick's XIAP protein? Georgia Tech School of Biology Nick’s mutation changes a key amino acid Bio@Tech Georgia Tech School of Biology Bone marrow transplant for Nick For each of the roles, discuss questions and concerns. How might each person react and feel about the results thus far? Georgia Tech School of Biology Would you get your genome sequenced? • What would motivate you to get your genome sequenced? • What would you want to know about your genome? • What information, if any, would you want withheld? • Who would you share the information with? Bio@Tech