Personal Genomes and Ethical Issues How to Analyze Your Own Genome
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Personal Genomes and Ethical Issues 02-‐223 How to Analyze Your Own Genome
Declining Cost of Genome Sequencing • The genome sequencing is expected to happen rouAnely in the near future
Schadt, MSB, 2012
The era of big data: the genome data are already being collected in a large scale and being mined for scienAﬁc discovery to drive more accurate descripAve and predicAve models that inform decision making for the best diagnosis and treatment choice for a given paAent.
Would you post your genome on the web?
Genomes and Privacy • DNA sequence data contain informaAon that can be used to uniquely idenAfy an individual (i.e., genome sequences are like ﬁngerprints) • Balancing the need for scienAﬁc study and privacy
Genomes and Privacy • Privacy concerns – Genome sequence data and other related types of data (gene expressions, clinical records, epigeneAc data, etc.) are collected for a large number of paAents for medical research – Most types of data are freely available through internet except for genotype data • NCBI GEO database for gene expression data • The cancer genome atlas data portals – Genotype data are available to scienAsts through restricted access – ProtecAng parAcipants’ privacy through informed consent
The Cancer Genome Atlas (TCGA) Data
The Cancer Genome Atlas (TCGA) Data
Access Control for TCGA Data • Open access data Aer – – – – –
De-‐idenAﬁed clinical and demographic data Gene expression data Copy-‐number alteraAons in regions of the genome EpigeneAc data Summaries of data, such as genotype frequencies, compiled across individuals
• Controlled-‐access data Aer – Individual germline variant data – DNA sequence data – One should apply for an access to the data through NIH (database of genotypes and phenotypes)
Informed Consent for Scientific Research • Standard pracAce for enrolling human subjects in a research study – fully informing potenAal parAcipants on all aspects of a study including the aims of the study, risks, beneﬁts, costs, and protecAon of personal privacy – The origins of modern day informed consent for medical research can be traced to the Nuremberg Code in 1947 in an eﬀort to protect parAcipants in research studies (Homan, 1991).
Nuremberg Code • Research ethics principles for human experimentaAon • Established ader the Nuremberg Trials at the end of the Second World War
Nuremberg Code • On August 19, 1947, the judges of the American military tribunal in the case of the USA vs. Karl Brandt et. al. delivered their verdict. Before announcing the guilt or innocence of each defendant, they confronted the diﬃcult quesAon of medical experimentaAon on human beings. Several German doctors had argued in their own defense that their experiments diﬀered liWle from previous American or German ones. Furthermore they showed that no internaAonal law or informal statement diﬀerenAated between legal and illegal human experimentaAon. This argument worried Drs. Andrew Ivy and Leo Alexander, American doctors who had worked with the prosecuAon during the trial. On April 17, 1947, Dr. Alexander submiWed a memorandum to the United States Counsel for War Crimes which outlined six points deﬁning legiAmate research. The verdict of August 19 reiterated almost all of these points in a secAon enAtled "Permissible Medical Experiments" and revised the original six points into ten. Subsequently, the ten points became known as the "Nuremberg Code." Although the code addressed the defense arguments in general, remarkably none of the speciﬁc ﬁndings against Brandt and his codefendants menAoned the code. Thus the legal force of the document was not well established. The uncertain use of the code conAnued in the half century following the trial when it informed numerous internaAonal ethics statements but failed to ﬁnd a place in either the American or German naAonal law codes. Nevertheless, it remains a landmark document on medical ethics and one of the most lasAng products of the "Doctors Trial." hWp://www.ushmm.org/informaAon/exhibiAons/online-‐features/special-‐focus/doctors-‐trial/ nuremberg-‐code
Institutional Review Board (IRB) • A commiWee that has been formally designated to approve, monitor, and review biomedical and behavioral research involving humans • Title 45 Code of Federal RegulaAons Part 46 – hWp://www.hhs.gov/ohrp/humansubjects/guidance/45cfr46.html