Easier, Cheaper Access To Genetic Testing Is Groundbreaking And Scary
We've all been through it before – if not in real life, at least with Meredith Grey.
She knew her chances of developing Alzheimer's were greater because her mother eventually succumbed to the disease, but did she want to find out whether she carried the genes herself?
It took some hemming and hawing, but in the end, yes, she did.
Unfortunately, for this particularly well-loved fictional character, the gene mapping came back positive, and Alzheimer's is a disease for which there is neither a cure nor a reliable method of prevention.
But Meredith did have the good fortune of working at a hospital, which gave her access to the test.
High prices have limited general access to these kinds of tests in the past, but we're beginning to see a change.
In the last several days, information has come out about how a company called Color Genomics will offer a new, cheap genetic test screening for breast and ovarian cancer.
The aim of the testing is to make screening for the two main culprits behind breast cancer – genes BRCA1 and BRCA2 – more “democratic.”
Are we raising false concern?
We Americans love democracy, but experts in the field have pointed out the fact there are several issues with making the test available to everyone.
For one, if you expand the number of people tested beyond those who have a familial history of the disease, the price per cancer-case-prevented goes up in a huge way.
Plus, genetic testing is definitely in its infancy, so there are a lot of genes whose effects are not yet known. A screening might therefore come back with a result that can't be properly understood, which leaves the recipient in a strange limbo about the state of his or her health.
This was one of the major problems with 23andMe, a company offering genetic testing through the mail, much like this new breast cancer screening service is planning to do.
According to the FDA's evaluation, 23andMe was providing incomplete and potentially incorrect information to people, who'd then base their medical decisions on false information. The FDA shut down its mail service in 2013.
Both 23andMe and Meredith Grey lead us back to another major con tests like these pose: Even with a definitive positive result, there's not a whole lot one can do. How can people with a gene that might lead to Alzheimer's try to prevent a terrible disease once they've found out they might get it?
It becomes a fact these people have to live with, nothing more. Living with knowledge like that can, in some cases, cause anxiety or depression – the tests, it seems, can take away the hope and optimism people might have had previously.
People whose parents have rare genetic diseases have lived with this knowledge for as long as we've understood genetics, and it doesn't always lead to illumination.
With breast and ovarian cancer, of course, there are things people can do. In order to diminish her risk of breast or ovarian cancer, Angelina Jolie decided to have her breasts, ovaries and fallopian tubes removed after learning she had a rare mutation in her BCA1 gene, putting her highly at risk.
It was an option for her, but for many women, it's not.
People are talking about prevention – and it's important.
The list of pros isn't limited to knowing you'd be a candidate for major elective surgery, either.
Each genetic result gained and followed leads to an increase in knowledge for the scientific community, which is no small thing.
More important personally, however, is women who know they're at greater risk can be more fastidious about getting frequent exams of any risk areas.
For many women, this knowledge is probably worth the potential downside – which must be one of the things Color Genomics is counting on with its new venture.
What it comes down to is a deeply personal decision, one we as Millennials will all have to make for ourselves, as these sorts of tests are likely to get more widespread and cheaper by the month. How will this change our view of medicine from that of our parents and grandparents?
On the one hand, we can in some ways already be better informed about our future – but in others, we're just as much in the dark as before. Even a negative result on this test doesn't rule out the chances you'll get breast cancer (or even that you won't); it just confirms you don't have this one gene.
Humans have about 24,000 genes. It's a finite number, but it's a lot. We know a lot more than we did 50 or even 10 years ago, but there's still so much we have to learn.
There's no reason to believe we won't know the function of each and every one of those genes in our lifetimes – but this knowledge still wouldn't paint a complete picture of our future, which can change with environmental and other risk factors that could come together to form diseases.
General preventative care, regular check-ups and healthy living are, and will still be, the most important things we can possibly do for our bodies.
Basically, these tests let us see possible versions of our futures – if we want to.
The only question remaining is... do we?
Citations: Speaking More Than One Language Could Prevent Alzheimers (NPR), DIY Breast Cancer Test Could Be A Cheaper Solution For Early Detection (Elite Daily ), New Genetic Tests for Breast Cancer Hold Promise (The New York Times), Warning Letter to 23andMe (FDA), DTC Genetics Pros and Cons (Knowgenetics.org), What Its Like To Be In A Family Cursed With Huntingtons Disease (Elite Daily), Angelina Jolie Explains Why She Removed Her Ovaries And Fallopian Tubes (Elite Daily ), Seeking Your Genetic Information Pros and Cons (Breastcancer.org), How many genes do you have (sciencemuseum.org.uk)