Genomic Medicine for Common Chronic Adult Disease

A new review found that more research is needed to determine the possibilities for genomic medicine in common chronic adult diseases.

Researchers from the RAND Corporation, Santa Monica, CA, explained that new advances in understanding the human genome may  produce great public health benefits for common chronic diseases such as cardiovascular disease, diabetes mellitus and cancer. Attempts to integrate such knowledge into clinical practice are still in the early stages, and as a result, many questions surround the current state of this translation.

The review attempted to synthesize the current information on genetic health services for common adult-onset conditions by examining studies that have addressed the outcomes, consumer information needs, delivery and challenges in integrating these services.

The researchers used MEDLINE original research articles and systematic reviews dealing with common chronic adult-onset conditions published between January 2000 and February 2008. A total of 3,371 citations were reviewed. Of these, 170 articles were retrieved and 68 were included in the analysis.

Data were independently extracted by one reviewer and checked by another with disagreement resolved by consensus. Variables assessed included study design and four key areas: outcomes of genomic medicine, consumer information needs, delivery of genomic medicine and challenges and barriers to the integration of genomic medicine.

The review observed that generally, there were modest positive effects on psychological outcomes such as worry and anxiety. Behavioral outcomes have shown mixed results, and clinical outcomes were less well studied. One systematic review, one randomized controlled trial and 14 other studies assessed consumer information needs and found that genetics knowledge was generally low, but that overall attitudes were positive.

Three randomized controlled trials and 13 other studies assessed how genomic medicine is delivered and newer modes of delivery. The most consistent finding was  that the primary care workforce does not adequately deliver genetic services. Additional identified barriers included lack of oversight of genetic testing and concerns about privacy and discrimination.

The study authors concluded that there are many gaps in knowledge about organization, clinician and patient needs. They emphasized the need to fill these gaps in order to translate advances in genomics into clinical practice.

Comments

[Danielle]

What is genomics exactly? I think it's great that we are learning so much about how are bodies are designed and how they work, but I think we really need to proceed with caution because I see some of this research as having the potential to skew the dignity of the human person. I think it's important that scientists and society at large understand that "defects" or diseases do not make a person any less valuable as a human being or any less deserving of life. In our constitution, we are all guaranteed the right to life, liberty and the pursuit of happiness, and yet unborn babies who are suspected to have a genetic disease are not given that right. Especially in America, where we cherish our "melting pot" heritage, it's important for us to realize that people with different health conditions are also equal and imperative to the well-being of our society. Just read this article on CNN: http://www.cnn.com/2008/HEALTH/conditions/04/01/autism.ireports/index.html?eref=rss_topstories

Every person has an inherent worth, dignity and right to life, and our genetic makeup does not add or take away from this worth. Did you know that the father of the unborn Mozart was crippled, his mother was deaf and blind and his parents already had 13 other children?

[GM]

Actually, integrating genetics into clinical practice is not as far off as the article says. There are currently several tests to determine genetic sensitivity to the anticoagulant warfarin by determining cytochrome p450 variations. The FDA has approved one of these tests, but the problem lies in the fact that insurance companies will not pay for it. (The typical cost is around $500.) There are also other tests to determine cytochrome p450 variations other than the warfarin ones, but these have not been as heavily marketed. Until genetic tests like the warfarin one become commercially available and cost effective, they will continue to be something of the future.

[CE]

For all of the Sci-fi movie fans out there, the movie Gattaca offers an extreme representation to some of the fears that some people may have about genomics. As Danielle pointed out in the previous comment, there is a fear that genomics will turn into some sort of discrimination tool. While I do not share this same fear, I realize that many people probably do.

[Barney]

It would be interesting to see a breakdown of the search results by year. There may be more positive effects, etc. found in recent years than in 2000 just based upon advances in the field. In the year 2000, I do not remember genetics being as hot a topic in the scientific community as it is now.

[Karla]

An initiative, called The Cancer Genome Atlas (TCGA), aims to identify all of the genetic abnormalities that are associated with 50 of the most common types of cancer. Eligible cancer patients donate small tissue samples, and the researchers use a variety of technologies to analyze and record the genetic material in the samples. The project, which began in 2006, is expected to take nine years to complete. Researchers plan to create a list of all the mutations that cause cancer or allow cancerous growths to develop.

[Julie]

The Centers for Disease Control and Prevention (CDC) have an office devoted to this issue:

The National Office of Public Health Genomics (NOPHG) promotes the integration of genomics into public health research, policy, and practice in order to improve the lives and health of all people. Public Health Genomics is an emerging field that assesses the impact of genes and their interaction with behavior, diet and the environment on population health.

The Office of Genetics and Disease Prevention was established in 1997. The office was renamed the Office of Genomics and Disease Prevention (OGDP) in 2003. In 2006, the name was changed again to the National Office of Public Health Genomics (NOPHG). Currently, NOPHG provides national public health leadership, and builds partnerships with other federal agencies, as well as public health organizations, professional groups, and the private sector.

Our Vision: To use genomic knowledge to improve the lives and health of all people.

Our Mission: To integrate genomics into public health research, policy and programs.

Our Goals:

1. Integrate genomics into public health surveys and investigations.
2. Assess the value of family history in risk assessment and disease prevention.
3. Evaluate the use of genetic tests for population health.

http://www.cdc.gov/genomics/

[Joe]

I think that genomic medicine is years away and will meet heavy opposition by the general public in times to come. The federal government is doing an excellent job in making skeptics out of all of us with their ever-expanding DNA collection for the criminal database. Big Brother will soon be collecting DNA samples from any foreign detainees who are not even charged, as well as from any US citizen who is arrested for a federal crime. This policy, as well as others to come for sure, will make everyone weary of anyone wanting DNA information in fear that it will be used against them in some way.

http://www.detnews.com/apps/pbcs.dll/article?AID=/20080417/POLITICS/804170342/1022/rss10

[Dave]

I think genomics could be the ultimate form of preventative medicine in many of the plaguing conditions our society is faced with today. Danielle, you stated insurance companies more often than not will not pay for CYP tests. Thankfully, we have very efficient warfarin dosing protocols or there would be a lot of trouble. In the same light, however, it is going to very convincing data to show genomics to be that cost effective in preventing many diseases. I’m sure in the long run it will be.

As a side note, GM, I agree with your Gattica comment and must add A Brave New World by Aldous Huxley to the list of fear-inciting material on this topic.

[LM]

Genomic medicine is fascinating, but this scientific advance may lead to mixed feelings of hope and fear in both patients and healthcare professionals. Is it ethical for patients to have genetic tests? As the authors discussed, several issues are still in question with genomic medicine and its acceptance and use by patients and practitioners.

[Larry]

I think the road to genetic screening and testing is going to be a long and expensive one that will waste the healthcare industry's time and money. What about sinking money and time into improving things like lowering infant mortality (which the U.S. is not even in the top 20) and preventing chronic diseases? Important issues like these are often not related to genetics, but where is the progress and discovery? Sometimes science is like a popularity contest, and unfortunately, some of the least useful things become a hot topic. The cost of genomics will far outweigh the benefits, at least for now.