4 - Case Study
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 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
- Compare and contrast their mission and vision.
- Compare and contrast their major focus areas of
- 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.
This is the case study:
Timothy B. Patrick, Peter J. Tonellato, and Mark A. Hoffman
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.
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 whith 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 serious injuries? She was raced to the ER where the 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 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 in 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, which found a mutation in the ryanodine receptor
(RYRI) 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 106 degree F.
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 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 Jeans 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 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 that 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: 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 diagnosis and
treatment? How that is different from the Havasupai Indians’ lost- blood case?
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. 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
Grace: Sandy, for goodness sake, it was only blood!
Sandy: Not at all, Grace, not at all.
Hippocratic oath (translated by and reprinted
from North 2009):
swear by Appollo, the healer, Asclepius, Hygicia, 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, specialist in this art. In every house where I come I will enter
only for the good of my seduction and especially from the pleasures of love
with women or with men, be they free of slaves. All that may come to my
knowledge in the exercise of my profession or in daily commerce with men, 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