Two health sciences graduate students, Sandy and Grace, are discussing their differences of opinion about the value of clinical uses of genetic and genomic patient information. Sandy: It’s 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 sci- ence; 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—and, by the way, neither did her close relatives and family know or give their permission. It’s a clear case of science overstepping its bounds to the detriment of the individual. Grace: Sandy, you yourself know that the scientific research’s benefit to society really means the medical care benefit to the individual. Don’t you remember the recent case that took place here in our own hospital—the case of Jean, a 17-year-old who was visiting at the home of a friend when she fell down, struck her head, and suffered seri- ous injuries? She was raced to the ER where she required emergency surgery, and neither her parents nor relatives could be reached before the procedure. The mother of Jean’s friend provided the hospital with Jean’s name and home address, which allowed the ER personnel to associate Jean with her parents in the system. Using the hospital’s healthcare information system, the surgeon entered an order for the protocol that she was planning to use to treat Jean. Among the details included in the protocol was the use of halothane [a type of anesthe- sia]. Jean had never been the subject of genetic testing, but her father had a genetic test, which found a mutation in the ryanodine recep- tor [RYR1] gene. When people with this mutation are exposed to halothane, they can experience malignant hyperthermia, an often-fatal reaction in which the core body temperature can reach 106oF. The hospital’s information system used the demographic person– person relationship between the father and his daughter, and embed- ded pharmacogenomics decision support capabilities, to infer that Jean was at 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 Jean’s father that a potentially catastrophic clinical event was averted! Sandy: But you make my case for me. The potential of abuse of the genetic data is magnified by the existence and use of sophisticated healthcare information systems. There’s no mystery about the poten- tial for abuse. Jean’s father was the one who had the test, not Jean. Yet the information produced by the test was also about Jean. Sure, revealing that information happened to help Jean, but the principle is that the information was about Jean as much as it was about her father. And Jean never gave her permission for that information to be used or revealed! It’s her body and her genome, not her father’s, right? So it’s her right to privacy that was violated. Grace: It might be her body, Sandy, but given the genetic data and information, we are bound by our Hippocratic oath.1 That includes “do no harm” [primum nil nocere, in latin]. In practice and in effect, Jean’s life was ours to save. What other choice did we have? Sandy: What about consent and protecting her privacy? And what about Jean’s father? Did he give permission to release the information from his genetic test to be used in ways other than for his diagno- sis and treatment? How is that different from the Havasupai Indi- ans’ lost-blood case? Arizona State University researchers asked the Havasupai if they would provide blood for studies to discover clues about the tribe’s incredible rate of diabetes, presumably to help the Havasupai. Then 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 Havasupai’s consent. Grace: Sandy, for goodness sake, it was only blood! Sandy: Not at all, Grace, not at all. Note 1. Hippocratic oath (translated by and reprinted from North 2009): I swear by Apollo, the healer, Asclepius, Hygieia, and Panacea, and I take to witness all the gods, all the goddesses, to keep ( according to my ability and my judgment, the following Oath and agreement: To consider dear to me, as my parents, him who taught me this art; to live in common with him and, if necessary, to share my goods with him; To look upon his children as my own brothers, to teach them this art. I will prescribe regimens for the good of my patients according to my ability and my judgment and never do harm to anyone. 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. But I will preserve the purity of my life and my arts. I will not cut for stone, even for patients in whom the disease is manifest; I will leave this operation to be performed by practitioners, specialists in this art. In every house where I come I will enter only for for the good of my patients, keeping myself far from all intentional ill-doing and all seduction and especially from the pleasures of love with women or with men, be they free or slaves. All that may come to my knowl- edge in the exercise of my profession or in daily commerce with men, which ought not to be spread abroad, I will keep secret and will never reveal. If I keep this oath faithfully, may I enjoy my life and practice my art, respected by all men and in all times; but if I swerve from it or violate it, may the reverse be my lot.
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 12 case study on pages 256-258 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 the case of Henrietta Jacks, 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.
- Must be two to four, double-spaced pages in length, excluding the title and reference pages, and formatted according to APA style as outlined in the Ashford Writing Center.
- Must Include a title page with the following:
- Title of paper
- Student’s name
- Course name and number
- Instructor’s name
- Date submitted
- Must begin with an introductory paragraph that has a succinct thesis statement.
- Must include a minimum of three references, (excluding the textbook), on a separate reference page, formatted according to APA style as outlined in the Ashford Writing Center.