Skip to content

Awesome Genetic Announcements

467px-dna_repair.jpgI’ve always had a dream: I enter a centre of genomics where I get my DNA sequenced in one week for cc. 1000$ then my geneticists tell me what kind of diseases I will definitely acquire through my life and what kind of diseases I have elevated risk for. Then I can change lifestyle, diet, I can do more exercises or repair some genes (gene therapy) so I could be much more optimistic about my future.

After reading some recent announcements and publications, it seems that my dream is getting closer and closer to reality. A Nature article, Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls have studied seven common familial diseases by genome-wide association analysis in 16,179 individual:

  • Bipolar disorder
  • Coronary artery disease
  • Crohn’s disease
  • Hypertension
  • Rheumatoid arthritis
  • Type 1 diabetes
  • Type 2 diabetes

A simple but important observation is that GWA analysis provides a highly effective approach for exploring the genetic underpinnings of common familial diseases. Our yield of novel, highly significant association findings is comparable to, or exceeds, the number of those hitherto-generated by candidate gene or positional cloning efforts.

According to a Telegraph article:

Together the seven diseases affect more than 20 million people across the UK, with coronary heart disease alone claiming the lives of 105,000 people every year, making it the country’s biggest killer. The study has identified, for the first time, some of the genes that trigger these diseases…

New preventive strategies and new treatments depend on a detailed understanding of the genetic, behavioural and environmental factors that conspire to cause disease.

Though, the Economic and Social Research Council’s Genomics Policy and Research Forum urges wider debate on genes discovery announcement:

The Economic and Social Research Council’s (ESRC) Genomics Policy and Research Forum1, based at the University of Edinburgh, is calling for wider debate about the implications of the recent genes discovery announcement.2

The Forum agrees that the study demonstrates the great potential for large-scale genomic research to improve our understanding of health and disease, but feels it is important not to view the results in isolation.

What about the future? Forget that genomics centre. Just use your Personal DNA Analyzer and find those “bad” genes.


Tell us your opinion! Are you afraid of improved genetic testing?

Further reading:

6 Comments Post a comment
  1. Bertalan, as always your optimism is inspiring! As a geneticist, I hope you’re right that personalized genomics will lead to personal health empowerment. But we need to figure out a few practical issues first – especially in the US, where quality health care is not a public service. There is a real risk here that knowing one’s genetic risks could lead to being uninsured and unemployed. That might be worth it if a serious disease could be prevented; but in some cases, there is no preventative treatment. If I have a high risk for something controllable like heart disease, I can change my diet and exercise, but what can I possibly do about early-onset Alzheimers, or bipolar disorder, other than living in dread until the disease manifests (or doesn’t)? I’d like to hear your thoughts on how we should handle situations when genetic testing turns up a high risk of diseases for which we still have few therapeutic options.

    June 13, 2007
  2. Sorry for the late answer, I had to finish my preventive medicine exam.

    This comment is going to lead to a whole post about the subject. So thank you: it was the most valid comment in the last months.

    June 14, 2007
  3. Cool – I’ll look forward to your answer. Hope your exams went well!

    June 15, 2007
  4. Annie #

    Well, bioephemera, the risk of being uninsured and unemployed is still there even if the knowledge of the genetic risk is worth it. I happened upon this blog while doing some online research on my BRCA 2 mutation (1983del5). Forget about changing jobs (and insurances), I worry about post-retirement health insurance. I am insured now through my job and, supposedly, I can keep that insurance at retirement until I reach the age where I am eligible for medicare. But, at what cost? By keeping this insurance, I avoid the issue of preexisting condition. But this is an insurance company well aware of my risks. I suspect my premiums will be substantial. So, does it make sense to have prophylactic surgery now? I have had prophylactic bilateral oophorectomies; my mother had ovarian cancer. So I ask myself: should I get prophylactic mastectomies before I retire so that I can reduce my cancer risk in case I don’t have insurance later? What a difficult question to answer!

    July 18, 2007
    • Jannie #

      Annie, I have the same mutation, 1983del5, and had a PBM and BSO at age 61. I hope you have had your PBM by now. It is a good thing that the preexisting condition is no longer a reason to be denied health care coverage. Having those surgeries dramatically reduced your risk of cancer.

      December 23, 2015

Leave a Reply

Fill in your details below or click an icon to log in: Logo

You are commenting using your account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s


Get every new post delivered to your Inbox.

Join 60,998 other followers

%d bloggers like this: