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What you have to know about personalized genetics

Genes load the gun. Lifestyle pulls the trigger.

By Dr. Elliot Joslin

I’ve written at least a hundred times about personalized medicine so it’s the perfect time to come up with a short description of what individualized medicine is about. In this new world of medicine, you get a treatment that is not only based on the epidemiological data of your population, but your own genetic background. But let’s start with a more appropriate definition:

Personalized medicine is use of information and data from a patient’s genotype, level of gene expression and/or other clinical information to stratify disease, select a medication, provide a therapy, or initiate a preventative measure that is particularly suited to that patient at the time of administration. Personalized medicine makes it possible to give: “the appropriate drug, at the appropriate dose, to the appropriate patient, at the appropriate time”. The benefits of this approach are in its accuracy, efficacy, safety and speed.

All right, here is an even shorter one.

…turning genetic variations associated with population-level risks of disease into medically advice useful for a single person sitting in an exam room.

We can also watch it on video:

Who are the key players?

23andMe: Single Nucleotide Polymorphism and genealogy analysis for 1000$. Check out my review or the demo account I created.


Knome: Whole-genome sequencing for 350,000$. Check out my review.


Navigenics: Will launch the service in days. My review is here.

Helix Health: A New York company founded by our gene sherpa, Steve Murphy, who answered my questions some months ago. Helix Health focuses on the family history of the patient and their genetic background as well. Genetic counselors discuss the disease-specific risks with the patients.


DecodeMe: It analyzes over one million variants in our genomes; calculates genetic risk for 23 diseases and finds our ancestors for $985.


Who and what do stand behind the whole concept?

Archon X PRIZE for Genomics: The $10 million X PRIZE for Genomics prize purse will be awarded to the first Team that can build a device and use it to sequence 100 human genomes within 10 days or less, with an accuracy of no more than one error in every 100,000 bases sequenced, with sequences accurately covering at least 98% of the genome, and at a recurring cost of no more than $10,000 per genome.

The aim is the 1000$ genome.

Craig Venter’s genome that was published in September, 2007.


Who and what should you follow to know everything about personalized medicine?

16 Comments Post a comment
  1. I love this post in particular. I am currently attending a series of CE classes that talks about personalized medicine and genomics. This is a very cool addition to the learning. And coolest presentation ever. Very well put, I love it! Thank you.

    March 31, 2008
  2. Nice work, Bertalan – a neat summary of a fascinating area.

    For what it’s worth, I also write a fair bit about personal genomics and the future of genetic medicine at Genetic Future.

    April 1, 2008
  3. Every post precisely and concisely confirms the perceptions and potential within the obviously “to be refined” topic of “personalized medicine.”

    Based upon the responses by Dr. Elliot Joslin and others from I presume in 2007 – the then futuristic possibilities within personalized medicine are obviously evolving into not to distant marvelous realities which look to benefit more than one just might imagine.

    The approach from my opinion can be seen as “advancements in medicine overall with advancements in personalizing these advancements defined as ‘personalized medicine’… which then can then be improved and advanced evolving into a…

    interesting scenario.

    April 1, 2008
  4. Thank you for the positive feedback!

    I must add Genetic Future to those links.

    April 1, 2008
  5. Berci,
    Thank you. I am in New Orleans and will be presenting to the Association of Program Directors in Internal Medicine in about 10 minutes. I am going to speak about “Overcoming Barriers and Integrating Medical Genetics in Resident Education”

    To truly take advantage of these tools we need some good craftsmen and craftswomen…….I hope to help these teachers, teach themselves and the future craftspeople….


    April 2, 2008
  6. You’ll give a slideshow in 10 minutes and you’re reading blogs? :)

    April 3, 2008
  7. There’s a nice article on the consequences of personal genetic testing in the BMJ:
    I’d recommend this to anyone who wants to get himself/herself tested!

    April 29, 2008
  8. Megan #

    How many years of colage to you have to go through to be a geneticist?

    December 18, 2008
  9. It takes about 7 years to become a clinical geneticist in Hungary.

    December 20, 2008
  10. Hello there.I wonder if anyone can help me.My father has polio and postpolio. Can cfs be the same as postpolio. Is it a virus i have received in may genes from birth. Or is it a damage that i have received from my fathers polio.Can it be a fragil x kromosom that i have receieved from birth. I dont have autism, but someone else in may fathers family has it. My father has not autism, but he has one sister.She suffers a lot of autism. She has a brain damage that everyone knows. The other to brothers has a mild form of autism. They are smart, but a big lack of empathy of other people. Maybe because y grandfather was a little psykopat. He used to be very ugly with my grandmother because of his not understand social codes. The three brothers has adhd,the sister too. My father is very easy and very kind. He never thinks about himself. He is the kindest man in the world. I wonder why he and not his brothers and sisters got it. I know that they have threated him badly. But everone thinks that they are kind to him. This is also a kind og sosiopat behaviour.

    February 7, 2009

Trackbacks & Pingbacks

  1. What you have to know about personalized genetics | Personalized Information
  2. Gene Genie: the better late than never personal genomics special edition | My Biotech Life
  3. Personalized Medicine: Real Clinical Examples! « ScienceRoll
  4. Personalized Medicine: Real Clinical Examples! | OPTiC BURST
  5. Personalized Medicine in Video « ScienceRoll
  6. Personalized Medicine: Genetic Tests for Drugs « ScienceRoll

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