Genomic Medicine and Informatics The use of genetic information in health care presents many challenges, one of which is the protection of patient privacy. Given enough genetic information, a precise identification of a person can be made. Read the Health Informatics: A Systems Perspective Chapter 9 case study on page 201 and address the following: Explain if you agree with the perspective of Sandy or Grace? Articulate the reasons why. Compare and contrast the differences between

between the case of Henrietta Lacks, Jean and the Havasupai?

Explain how genomic databases can be used to accomplish meaningful research while protecting patient privacy.

Identify two US genomic institutes that focus on genomic medicine.

Compare and contrast their mission and vision.

Compare and contrast their major focus areas of research.

Did the site indicate if patient samples will be sequenced and the data combined with each participant's medical record to allow researchers and research partners to investigate new approaches to disease prevention, diagnosis and treatment?

If asked to consent to your genomic information being used in research, explain if you would consent or decline? Include your rationale for consenting or declining.

Case Study Whose Body?

Two health sciences graduate students, Sandy and Grace, are discussing the value of clinical uses of genetic and genomic patient information.

Sandy: Its always the same story, the supposed trade-off between the benefits to society and the sacrificed rights of the individual! Just remember the case of Henrietta Lacks HELA cells -cancer cells taken from Henrietta before she died have been invaluable to medical science; they led to the polio vaccine and other medical miracles. But Henrietta was never told what was going to be done with her cells; she never gave her permission. Nor did her close relatives or family know or give their permission. Its a clear case of science overstepping its bounds to the detriment of the individual.

Grace: Sandy, you know that scientific benefit to society really means medical care benefit to the individual. Dont you remember the recent case that took place here in our own hospital-the case of Jean, a 17 year old who was visiting the home of a friend when she fell down struck her head, and suffered serious injuries? She was raced to the emergency room, where she required emergency surgery, and neither of here parents nor her relatives could be reached before the procedure. The mother of Jeans friend provided the hospital with Jeans name and home address, which allowed the ER personnel to associate Jean with her parents in the system. Using the hospitals healthcare information system, the surgeon entered an order for the protocol that she was planning to use to treat Jean. Among the details included the protocol was the use of halothane, a type of anesthesia. Jean had never been the subject of genetic testing but her father had a genetic test that found a mutation in the ryanodine receptor gene. When people with this mutation are exposed to halothane, they can experience malignant hyperthermia, an often-fatal reaction that can cause the bodys core temperature to reach 106 degrees Fahrenheit.

The hospitals information system used the demographic person-person relationship between the father and his daughter and embedded pharmacogenomics decision support capabilities to infer that Jean had a 50 percent risk of also possessing this rare mutation. The system flashed an interactive alert to the surgeon, who was unaware of this genetic association. The surgeon responded to the alert by activating an alternative surgical plan that did not include the use of halothane, It was only by taking advantage of the genetic information about Jeans father that a potentially catastrophic clinical even was averted!

Sandy: But you make my case for me. The potential for abuse of genetic data is magnified by the existence and use of sophisticated healthcare information systems. Theres no mystery about the potential for abuse. Jeans father was the one who had the test, not Jean. Yet the information produced by the test was also about Jean. Sure, revealing the information happened to help Jean, but the principle is that the information was Jean as much as it was about her father. And Jean never gave her permission for that information to be used or revealed! Its her body and her genome, not her fahters right? So its her right to privacy was violated.

Grace: It might be her body, Sandy, but given the genetic data an information, we are bound by our Hippocratic oath to do no harm-primum nil nocere in Latin. In practice and in effect, Jeans life was ours to save. What other choice did we have?

Sandy: What about consent and protecting her privacy? And what about Jeans father? Did he give permission to release the information from his genetic test to be used in ways other than for his diagnosis and treatment? How is that different from the Havasupai tribes lost-blood case?

Grace: Remind me about that case.

Sandy: Arizona State University researchers asked the Havasupai if they would provide blood for studies to discover clues about the tribes incredible rate of diabetes, presumably to help the Havasupai. But the researchers used the collected blood for other purposes. They used the extracted DNA for studies on mental illness. The initial diabetes studies seem to have led nowhere, but even if that effort helped save lives, it would have been lives saved without the havasupais consent.

Grace: Sandy, for goodness sake, it was only blood!

Sandy: Not at all, Grace, not at all.

The following Hippocratic Oath is reprinted from North (2002)

I swear by Apollo the physician, and Asclepius, and Hygieia and Panacea and all the gods and goddesses as my witnesses, that, according to my ability and judgement, I will keep this Oath and this contract:

To hold him who taught me this art equally dear to me as my parents, to be a partner in life with him, and to fulfill his needs when required; to look upon his offspring as equals to my own siblings, and to teach them this art, if they shall wish to learn it, without fee or contract; and that by the set rules, lectures, and every other mode of instruction, I will impart a knowledge of the art to my own sons, and those of my teachers, and to students bound by this contract and having sworn this Oath to the law of medicine, but to no others.

I will use those dietary regimens which will benefit my patients according to my greatest ability and judgement, and I will do no harm or injustice to them.

I will not give a lethal drug to anyone if I am asked, nor will I advise such a plan; and similarly I will not give a woman a pessary to cause an abortion.

In purity and according to divine law will I carry out my life and my art.

I will not use the knife, even upon those suffering from stones, but I will leave this to those who are trained in this craft.

Into whatever homes I go, I will enter them for the benefit of the sick, avoiding any voluntary act of impropriety or corruption, including the seduction of women or men, whether they are free men or slaves.

Whatever I see or hear in the lives of my patients, whether in connection with my professional practice or not, which ought not to be spoken of outside, I will keep secret, as considering all such things to be private.

So long as I maintain this Oath faithfully and without corruption, may it be granted to me to partake of life fully and the practice of my art, gaining the respect of all men for all time. However, should I transgress this Oath and violate it, may the opposite be my fate.

Translated by Michael North, National Library of Medicine, 2002.