Pharmacogenetics

 

Definition:

A person's environment, diet, and general state of health can all influence how he or she responds to medicines. But another key factor is genes. The study of how people respond differently to medicines due to their genetic inheritance is called pharmacogenetics. The term has been pieced together from the words pharmacology (the study of how drugs work in the body) and genetics (the study of how traits are inherited). An ultimate goal of pharmacogenetics is to understand how someone's genetic make-up determines how well a medicine works in his or her body, as well as what side effects are likely to occur. In the future, advances gleaned from pharmacogenetics research will provide information to guide doctors in getting just enough of the right medicine to a person--the practice of "personalized medicine."

 

How may pharmacogenetics affect you?

 

The future of pharmacogenetics is unclear since it is a relatively new area of research. However, it is possible with the increasingly rapid progress of the biotechnology industry that this technology may come to fruition within the next 10-20 years. To utilize this technology, the process would include genetic profiling of each patient by their physician, who could thereby "personalize" their medicine to treat medical problems that may effect them in the future. The potential benefits of this are decreased adverse reaction to particular drugs.

 

Ethics of pharmacogenetics? Pros and cons?

 

It must be emphasized that pharmacogenetics is a burgeoning field yet to meet its potential, and therefore speculations about it should be taken with a "grain of salt." The ethics of pharamacogenetics are complicated because strong opposing opinions whether pharmacogenetics will be beneficial or detrimental already exist.

Much of the negativity about pharmacogenetics is not concerned with developing potentially safer and more effective medicine to people in order to decrease adverse reactions, rather the current controversy is with genetic profiling. A profound implication regards profiling of patients, which raises issues about confidentiality and ownership. The danger to patients is that this information could be a useful tool to insurance companies and employers who could utilize it for moral hazard considerations. Another issue is whether or not patients should be required to have genetic profiling and how that information is used. For example if a patient is told that they are susceptible for cancer later in life, is that helpful information for them to know, should they be treated for that condition earlier in hopes of preventing its manifestation? There are a number of questions still unanswered regarding the implications surrounding genetic profiling, confidentiality, privacy, and ownership that must be considered from a public health and a patient's right perspective.

 

http://www.nih.gov/nigms/funding/pharmacogenetics_laysummary.html

 

This website is affiliated with the National Institute of Health and provides a brief explanation of pharmacogenetics and difficulties associated with development and clinical application. Research focuses on genes, cells, and the overall physiology of the person to gain an understanding of the mechanism necessary for this technology to be applicable. Research at the genetic level is attempting to identify those genes that predispose a person to a particular illness and reactions or allergies to specific medications. At the cellular level, scientists are using animal cells (i.e. mice) to understand how "spelling changes" in a person's genes effects drug responses. Findings originating at this level may be transferable to human subjects toward understanding further the predisposition of some genetic make-ups to particular diseases and drug reactions. Manipulation of animal cells allows scientists through experimentation to develop the precursor theories about personalized treatment of illness in humans. A discussion of future implications of pharmacogenetics and a "real-life" example of applied pharmacogenetics for the treatment of a common form of cancer is included. Finally, the website relates the role of the Nation Institute of General Medical Sciences in encouraging further pharmacogenetics research including an explanation their current research efforts in the field.

 

http://www.aacc.org/pharmacogenetics/

 

A site that is a compilation of edited presentations given at the "Pharmacogenetics in Patient Care" conference sponsored by AACC on November 6, 1998 at the Sofitel Hotel, Chicago. Presentations given by leading physicians and scientists involved in pharmacogenetics research and include defining pharmacogenetics, populations and polymorphisms, pharmacogenetics technology, payers view of pharmacogenetics, pharmacogenetics in neurology/psychiatry, pharmacogenetics in hematology/oncology, pharmacogenetics in cardiology, and pharmacogenetics in environmental medicine. Clearly, there was a broad range of topics and applications of pharmacogenetics discussed at this conference. Audiences for these presentations were other physicians and scientists therefore they do get fairly technical at points. However, people with non-medical backgrounds should be able to understand the majority of the information. This site is particularly interesting because it focuses on how pharmacogenetics will change patient care.

 

http://www.aafp.org/fpr/990700fr/8.html

 

This website is a family practice report from July 1999 discussing the ethics of genetic advances in general and addresses some common ethical concerns people have about genetics and genetic research. The rapid progress in genetics and science in general, often occur before the social and ethical issues are debated publicly and the scientific community and governments can install guidelines and regulations about the research. Ethical concerns discussed here include those that affect each citizen directly in their own relationship with their family doctor. Questions such as when to have genetic testing, the controversial confidentiality issues surrounding genetics, genetic discrimination and the pro's and con's of genetic testing and genetic manipulation are addressed in this document. Finally, summaries of recent studies into genetics pertinent to a general understanding of the implications and future hopes and fears surrounding this exciting new field of medicine are included.

 

http://www.cma.ca/jpn/vol-24/issue-2/0139.htm

 

This website is primarily focused on pharmacogenetics as it applies to psychiatry and the future of psychotropic drugs. It begins with short history of pharmacogenetics from its inception in the 1950s to the present. Thereafter, the website is dedicated to discussing major pharmacogenetics-related studies in psychiatry with fairly technical description of particular hormone and their receptors. Although, this site does provide a useful history of pharmacogenetics, the level of detail in the discussion of its application to psychiatry may be difficult to understand for someone without a medical background.

 

http://www.who.dk/Verona/Publications/Roses.htm

 

This site contains an essay by Professor Allan Roses entitled "The Impact of Genetics Research." He addresses the question of what impact will genetics have on health promotion? An area that is addressed is how genetic research has the potential to individualize medication for patients depending on their genetic make-up (i.e. pharmacogenetics). Similarly, the possibility of recognizing people that are susceptible to particular diseases based on genotypes rather than the current care that is based primarily on patient's phenotypes. Also discussed is the genetic profiling of patients, which is required for pharmacogenetics to decipher whether each patient will have an adverse reaction to a medication. The field of and theory behind pharmacogenetics and how scientists and physicians may one day be able to personalize medicine to a patient is described down to the gene-level. The importance of pharmacogenetics is put in context by explaining how prevalent adverse reactions to medicines are in health care. Pharmacogenetics offers the opportunity for decreasing adverse reactions.

 

Other questions addressed:

 

What impact will this genetic research have on reducing health care inequalities in society?

 

How does new genetic diagnostic capabilities compare with current technology as a health care determinant and what are their social and economic implications?

 

What are the legal and ethical implications of genetics research within the broader context of health strategies?

 

This site is organized as an essay and has interesting insight into genetic research, pharmacogenetics, and associated implications of progress in this field. It is quite thorough in its description and does contain some technical words, but overall this essay is easy to read and pertinent to those interested in this area.


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