hi this is dr. bertalan mesko the medical futurist and today I want to
talk about what having a genetic test is like hey you that's right you wouldn't
you like to know the story of you what makes you you
DNA and me is a genetic service that can help you find out exactly who your
ancestors were you might be surprised ancestral DNA testing is at its peak by
the start of 2019 twenty six million people had purchased genetic testing
kits from companies like 23andme or ancestry.com people go crazy about
finding out trace percentages of their ancestry and airbnb now even recommends
genetics based vacations to places where our ancestors lip but direct-to-consumer
genetic testing can go way beyond that it can help us tackle inherited diseases
it can teach us about what diet serves your body best or it can warn you about
how you will react to certain medications it can be a goldmine of
medical information that can help you live longer and healthier as a
geneticist an acquisition having done seven genetic tests I'm in a unique
position to show you what these tests are all about in this video I would like
to take you through the experience of genetic testing that goes beyond
ancestry and show you what to expect and how to use the information to improve
your life DNA and me are you in helping yes I'm in
it all started with the human genome project in the 1990s it took more than a
decade and three billion dollars to accomplish its goals but in 2003 they
finally had the first human genome sequence now you might wonder what it
all means the genome is the collection of our genetic information will point to
billion base pairs is the blueprint of every organism your cells work based on
the instructions they get from that blueprint the human genome project
deciphered most of these instructions and gain insight to what makes you you
skip ahead a few years and they had the first direct to consumer tests that cost
close to hundreds of thousands of dollars skip a few more years ahead and
genetic testing now costs only about 200 dollars let's see how they work
genetic tests usually use a method called genotyping since 99.9% of the
human DNA is the same in every one of us genotyping doesn't look at all the 3.2
billion base pairs it only focuses on a few hundred thousands of them that makes
up that 0.1% that differentiate you from others so if you want to use
ancestry.com for example they will look at some genetic variance to determine
your language but it's important to know their method of doing this when they
receive your sample they will compare your results with reference populations
in their database but these databases are fairly new mostly coming from that
26 million new consumers who bought in on the DNA testing craze over the last
couple of years so the results you are getting is not really a look into your
family's past but rather how strongly a few unique markers in your genes
resemble different modern populations around the world and the exciting trace
percentages of ancestry from faraway lands I'm sorry but they are valid in
the margin of error and not conclusive at all so when that is about warrant
claims that her test results show that she is 0.09 percent to 1.5 percent
Native American what are the facts say that you absolutely have a Native
American ancestor in your pedigree well maybe maybe not
look it's still amazing that he achieved all that but you can find and recognize
genetic markers specific to certain populations around the world and there
are a lot of happy stories out there where ancestry testing help people find
long-lost family members but the same technology ancestry tests used to give
you clues into your family's past can give you hints about your own future
companies like outlaws biomed futo genetics or my DNA use genotyping as
well but they focus on very different genetic pilots they can look for how
susceptible you are to certain medications and what kind of diseases
you have a risk for if I said they can be a goldmine of information which is
why these tests can play a vital role in your health because if you have a higher
risk for diabetes for example you can mitigate or intensified with factors
like sports and diet but to pay attention and design your lifestyle in a
way to prevent it you need to know your risk factors first as I've personally
tried seven different tests I have a little experience with these tests so I
want to go through the process with you step-by-step I want to show you how
testing works what to expect from the results and what to do with the
information you'll get
so first things first the sampling process my latest test was from a
company called Atlas pilot but genetic tests have a fairly similar sampling
process the companies send you a small cube that you need to fill up with a
disgusting amount of saliva and even though it sounds easy enough
it takes some time the most important thing is that you can't eat drink smoke
or even use a chewing gum at least for half an hour
before taking a test when you are ready you screw the cap on the container
releasing the DNA preserving liquid you mix the materials and see it since you
are dealing with a biological sample you have to do some administrative work -
and then you can send it back to the lab
waiting is probably the worst part of it I understand that shipping the package
conducting the genetic analysis and uploading the results takes time but in
cases like this people tend to be impatient in Atlas baima's case I
activate for four weeks luckily the company kept me posted about
the progress of my analysis and they also send me a survey to assess my
general lifestyle habits to get to know me better
I had to respond to questions about my height weight my diet workout plan and
whether I smoked or not sorry they try to obtain every piece of
detail about my lifestyle that cannot be mined from a genetic test when the
report of my results finally arrived I certainly wasn't disappointed it was
available in a nicely designed transparent and very user-friendly
online dashboard Atlas biomed promises to build up your risk profile for 19
multifactorial diseases and carrier status for common gene variants linked
to 322 harry terry conditions the company explains risk factors for each
and every disease and also lists the studies based on which the team
determines the risk score you have they group the conditions into high risk
increased risk average moderate or low risk categories
I could read a description about the disease's themselves as well as how my
genetic background and my lifestyle based on the survey could impact the
given risk category I consider myself lucky as I'm not a courier for any of
the more than 3-hundred conditions however I have to tell you beforehand
that different companies use different technologies for analysis and results
may finally vary the test provided by my DNA showed that what kind of medications
I have a sensitivity for I learned that if I ever have to take a medication
lowering cholesterol I might get significant side-effects
it's good to know another test from food to our genetics determine that I do have
a genetic predisposition for obesity therefore I must make sure that I follow
this lifestyle I have now forever was learning about my risk for deep vein
thrombosis prompted my primary care physician to let me know that if I ever
have an injury and must stay in bed for more than a day or so we have to
consider a medication against blood clots now you might ask how many tests
do I need to take to have a clear picture the answer can be different
depending on what you're looking for or the answer can be only one
while genotyping looks at few hundred thousand base pairs in your DNA genome
sequencing goes for the whole nine yards and looks at the old 3.2 billion genome
sequencing is basically the same method that the human genome project developed
but while back then it took 13 years and three billion dollars to do it nowadays
you can order a test online for a few hundred dollars more than a 23andme test
and get the results in about two months the sampling process is pretty much the
same as with most genetic tests it requires a tube and a whole lot of
saliva it is sometimes performed from blood to
but the results are very more extensive than regular genotyping tests I had my
full genome sequence at Dante labs and then my 163 pages long report came back
in my raw data it was a bit intimidating this was a thorough look at every secret
of my DNA and I'm gonna be honest I was a bit worried what they might find
fortunately the report helped me interpret data as they emphasized the
likelihood of the risks they included various illustrations and scales to
visualize the results and as there is a difference between having a risk based
on one study or 50 they also divided that the outcome based on the prevalence
of evidence but still there was a mountain of information and whether you
are taking the genotyping test or do original sequencing it's highly
recommended to get the assistance of a genetic counselor to put things into
perspective and help you interpret complex and at times overwhelming
results
the genome sequencing test from Dante labs had a hereditary cancer report and
naturally I wanted to get to the bottom of my results in a case of Dante labs
they connected me to a counseling team at DNA thinkin whose services are HIPAA
compliant so information sharing was protected and encrypted
I was curious whether I had any significant risks that I should
definitely be aware of and take into consideration on making lifestyle
choices I wanted to know whether I possess a genetic factor that I should
always keep you know in the back of my mind the condition call me by saying I
don't have any mutations of the known genes that may substantially increase my
risk of territory cancer for example BRCA the counselor mentioned the
slightly increased risks for melanoma and colorectal cancer but also explained
the steps to take to prevent them proper skin protection from sun exposure
routine controls with a dermatologist and getting the recommended screening
with colonoscopies to catch any potential tumors early or at least as
early as possible the counselor also told me that I have a factor 5 Leiden
mutation that gives me a slightly increased tendency to form abnormal
blood clots that can block blood vessels but the counselor
added the much needed context here this is a common mutation that three to eight
percent of people may have and most people with this mutation never develop
clots and that's exactly why you need counseling to understand your results
deeper to put them in context and to know how to adjust your lifestyle to
prevent the inherited risks I'm not gonna lie it could be a scary experience
to know this much about yourself but I also believe that now that we have the
technology we shouldn't bury your heads in the sand we can change our lifestyle
to be in harmony with our genetic code because if we know what dangers lurk in
our future we can take steps to limit their risks or prevent an entirely
because as the saying goes genetics loads the gun but lifestyle pulls a
trigger the amazing part of this whole DNA testing craze is that these are
still very early days think about it 20 years ago our DNA was a cipher we
couldn't crack then it took us 13 years and three billion dollars to finally
understand it and now anyone can order a test package online and in four weeks
they can have their personal genome sequence the single most valuable
medical information a person can obtain so what is it so heading a major
genetics company Illumina already announced that their new machine can
decipher an entire human genome in one hour they also expect prices to continue
to fall to a place where it can be affordable for anyone and did that one
day genome sequencing can join our most basic diagnostic tests being as simple
as a blood or urine test unfortunately as of now healthcare is
not ready for mass genome sequencing in my own country Hungary you can't even
add the data to your medical records but hopefully in the future health care
systems around the world will recognize the potential of genome sequencing and
incorporate it but until then it's up to the patient to work with their general
physician and their genetic counselor to figure out what to do with the
information and to create a preventive varied online things will get really
exciting now we know how to read our blueprint but there is still so much
that we don't know about our genes but as these slowly reveal their individual
roles in our health and how they correlate to certain diseases and
conditions well it will bring a revolution in precision medicine too and
to look even further into the future one day perhaps we can use all that data to
even edit our genome and get rid of humanity's most ancient maladies if you
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