Name: What Can You Actually Learn from Your Genome?
Uploaded: 2021-05-11T07:41:38.000Z
Duration: 10 min 46 s
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When it comes to your health, it seems like genetic testing promises a lot.

And it doesn't just make promises about big health conditions, either:

These tests even give advice about what lifestyle, diet, and level of exercise

But generally speaking, it might be worth taking some of that information with some grains of salt.

Because while we have gotten pretty good at reading the human genome,

And when it comes to our bodies, our genes aren't so much an open book,

as the world's biggest  crossword puzzle.

Your genome is the complete set of DNA hidden inside your cells.

It consists of about 3 billion base pairs, which are molecular building blocks represented

For most people, those letters are spread across 23 pairs of chromosomes and your mitochondria.

And they contain pretty much all the instructions that make you… you.

In the last couple of decades, we've gotten much better at analyzing those instructions

and understanding what those strings of letters correspond to.

And today, genetic testing can help us solve crimes, discover our ancestors,

At least some important health decisions.

One thing genetic tests are great at, is telling us about things caused by one, well-understood variable.

Huntington's disease, for example, is a disorder that kills neurons in the brain.

And it's caused by a mutation to a single gene known as HTT, which sits on chromosome four.

In this mutation, a section of the gene that normally repeats 10-35 times

is instead copied much more, turning its normally helpful product into toxic fragments.

So if that mutation comes up in a test, doctors can pretty confidently say what's going on.

This is also true  with sickle-cell disease.

That story happens on chromosome 11, where a mutation in the gene HBB

ultimately causes red blood cells  to change shape.

That can cause anemia and vascular problems.

And again, the mutation is pretty easy to identify.

There are even some smaller things genetic tests can confidently say,

like how you'll respond to certain medications.

For example, people with a certain variant in the gene VKORC1, which is involved in making blood clots,

can be especially sensitive to the blood thinner warfarin.

Essentially, warfarin works by grabbing onto the VKORC1 enzyme and blocking it from doing its job.

But some mutations can make a person produce less of this enzyme than normal.

So a typical dose of warfarin becomes an overdose, putting the patient at risk of abnormal bleeding.

There are also other mutations that make it harder for warfarin to bind to this enzyme,

meaning those patients might be underdosed by a typical prescription.

So a doctor can use a genetic test to figure out what dose to give them

The key, though, is that each of these examples is caused by a specific mutation in a well-known gene.

That means a genetic test can be fairly accurate and pretty useful,

because we know exactly what we're looking for and what it does.

But when you move beyond these cases, the situation gets a lot more complicated.

Because for most things, there isn't just one gene to blame.

Instead, there can be hundreds or thousands of them.

Let's take something simple, like height.

Tall parents tend to have tall children, right?

That's something we've noticed for generations.

But as much as we've looked, there doesn't seem to be a single “height gene.”

Instead, one study from 2014 found almost 700 variants and more than 400 locations in our genome

that could all play a part in height, usually only about a millimeter each,

Later on, some of those same authors did find a few mutations that had bigger effects,

but it was still maybe only a couple of centimeters at most.

The reason so many genes affect height is that, well, a lot of things go into determining how tall someone is,

or how much growth hormone their body makes.

And each of those little additions may come with its own gene or suite of genes.

But even if we could perfectly calculate all those effects,

we still might not be able to really predict how tall someone will become.

That's because, as far as we can tell, genes only make up about 60-80% of someone's height.

The other 20%-40% comes down to a person's environment and life history, like their nutrition.

This is a really common example, but the general principles are true for all kinds of things,

Genetic tests can identify if someone has inherited a rare gene variant that can increase their risk of cancer,

including BRCA1 and 2, which are associated with breast and ovarian cancer.

But since this disease doesn't just have one associated mutation,

there's no guarantee someone will develop it even if their BRCA1 gene is mutated.

There are also plenty of other things at work, including other genes and environmental factors

The same is true for something like type-2 diabetes, or obesity.

noted that the genes only account for about 5-10% of the risk associated with diet-related conditions.

The rest comes down to behavior and diet.

In other words, for most conditions, your DNA is not your destiny.

Genetic testing is still useful, though, because it can help someone know to be vigilant

or take precautions, or it could help doctors plan treatments for them.

And really, it only gets more complicated from there,

especially once you jump into the realm of mental health or lifestyle choices.

We know that it can run in families, which suggests it has something to do with a person's genetics.

And we've even found genes that appear to be linked to it.

But, if you thought 700 variants for height was a high number, brace yourself.

Because for depression, there are literally thousands of genes or gene variants involved.

One 2014 review estimated that as many as one in every five genes expressed in the brain

And even then, the estimated heritability was less than 40%.

That means more than half of a person's risk of experiencing depression

might come down to things totally unrelated to their genetics.

So sure, there are some conditions genetic tests can confidently identify.

But in the vast majority of cases, deciphering which genes link to which conditions

And actually, this applies to doing research on these traits, too.

Because while the number of possible variants is definitely a reason understanding a genome is so hard,

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What Can You Actually Learn from Your Genome?

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