The Irish Medical Times - Are you ready to share your genes?


Nowadays researchers can search/sequence the genome (blueprint) looking for genetic mutations that can play a role in disease progression. If you have a database of genomes you can look for common variations that are frequently seen in say cancer cells. You don’t have to wait for all the symptoms and until you are riddled with cancer to find out it’s coming your way. Genome based research can improve diagnostics, enhance therapies efficacy, and allow case specific decisions. Genetic data can also predict other major diseases such as Alzheimers and certain heart diseases.

As a survivor of multiple cancers I have undergone nearly every genetic test available, much to the horror of my US medical insurance company. My genome appears to be spickety span without the hint of a defect. Given my cancerous history, I was told I may have a defect that’s slipping through the net, one that I customised myself, something cute, homemade, and carcinogenic that I may pass down to my descendants. That said, and for my daughter who may read this, there is no evidence I have passed down any ‘cancer genes’, everybody has a hobby, some people collect plates, I collect tumours. I may have a ‘bad luck gene’ but my husband says not to worry it will get overwhelmed by his genes for ‘awesomeness’ - so there’s that to worry about. 

The reason I did all the testing wasn’t to find the mutation that I could hang all of my sorrows around (and put a centrepiece to the pity party I definitely would have thrown). I did the testing because knowledge is king. You can’t fix a problem, until you know what the problem is. 

Aside from ‘what’ we are, much of ‘who’ we are is based on our genome, but saying "my genes made me do it" doesn't usually land well. Personalities are formed extremely early on, some scientists believe they are created in utero with some early childhood experiences thrown on top. They pretty much stick for life (major psychological traumas aside). What you see in the sandpit as toddlers is usually not far off what will play out in the boardroom later in life. There's the loud, the sheepish, the smilers, the aggressors, the silent, the confused, the mad, the peacemaker, the depressed, the delirious, the leader, the followers, the content, the unsure, the popular, the ignored, the manipulator, and the weirdo, to name a few (for the record, we are all weirdos, if you think you're not the weirdo…you are the reigning President of Weirdopolis with a doctorate in peculiarity).

It’s great that we know so much about ourselves, some of us to a terrifying degree. But just because we live in an On Demand culture doesn’t make everything automatically on demand. Even if you found your quirky gene, that doesn’t mean the medication or therapy to manage that gene is ready, it could be 15 years away. Covid may have truncated clinical trials somewhat but they are still part of the process, and as we know, pharmaceuticals are a costly business. 

In the UK they are considering whole genomic sequencing at birth to detect an array of diseases. The dataset would be so large it opens up the possibility of developing new therapies faster. Babies are pin pricked at birth already to detect a standard 9 diseases so the data needed to sequence the genome is already being collected. But it’s not a catch-all test, there are mutations we have yet to discover (as mentioned earlier, my body could be carving up my own DNA variation as we speak - no wonder I’m tired all the time!). Obviously there is the cost, as of 2021 it would cost £700m each year to sequence every baby born in the UK. 

Privacy is big right now (shh, I can’t tell you why, it’s classified information). Just the act of gathering and storing data can give people the heebie jeebies. Many people don’t even like to reveal their full name on social occasions, for fear another dinner guest will perhaps steal their moniker and impersonate them in the post office picking up the socks they bought online. I can’t get my daughter to tell me what the code is on her bike lock, it’s “a secret” apparently. I saw an elderly woman in a doctor’s waiting room write on an official medical form that she was 21, to be then handed another sheet to fill in to confirm she wasn’t pregnant - she was about 103! Yet, as a world we upload in the region of 5 billion photographs and videos to the internet everyday (that’s an actual statistic). 

But the fear is real that employers, insurance firms, banks, companies and criminals will get hold of the very blueprint of who you are, profile you, and discriminate accordingly. First party data is the new oil and there’s nothing more personal than the content of your cells. 

There is also the world of CRISPR (gene editing) that brings its own pros and cons. On one hand it could potentially save the world by creating genetically modified crops that withstand blight and inhospitable weather. On the other hand you could cut-and-shut your embryos to genetically engineer the ‘perfect’ child, add the new trend of invasive suppository-parenting where you inhabit the child's life - that’s a pressured existence for the poor kid.  

But nobody wants to step away from genomic research, we can’t turn back the clock. It can be done, so let’s be honest it WILL be done. Arguing against it is almost like saying we shouldn’t use industrial looms for weaving because they will put people out of work, that thread has spun. If we at least try to regulate it, it may prevent some government sized tech firm (g-gov?) going all in - circa the year 2035 “What operating system do you run your body off? I’m a g’nome 6 myself”. 

However, in order to progress we have to take risks, and these risks can be mitigated. Circling back to the wise thoughts of the IPPOSI citizen jury, let’s do it, let’s build a database, but approach it ethically, lawfully and mindfully. There are techniques to try and safeguard data through de-identification, informed consent, cryptography, protection laws, access control, self regulation, and data perturbation (deliberately adding noise to a database to deter hackers). We can do this.

Genome research raises hefty ethical questions, but as a chronically seriously ill person I hope to God I haven’t passed a timebomb down to my daughter. If anyone builds the database I’d happily throw my genes their way, and if they find the ‘awesome’ gene, casually doing something amazing amidst the strands of my DNA, please let me know so I can inform my husband. 

For the original article read here - Are you ready to share your genes?