With a series of blogs and a 50% off on all tests, Dante Labs is thrilled to work with Dazzle4Rare to make Whole Genome Sequencing accessible to more people and help them live a better life.
Kimberly has shared her experience with us: read about it.
Dazzle4Rare represents a group of non-profit communities, patients, and caregivers across genetic and acquired conditions. Banding together means to finally have a voice, thanks to social-strategies in order to reach each other’s friends and family networks.
By sharing stories, people have an opportunity to raise a greater awareness and, finally, to be heard.
The more they speak up and speak out, the more likely they are to reach those who may need to hear their message the most.
Dante Labs is happy to give its voice and help them share their words.
During my long undiagnosed journey and the more I reviewed my own records, the more I realised there was a piece of the puzzle missing. For a long time, I could not think of what diagnostic tool could possibly be – until I read a statement from a clinician suggesting that long-term undiagnosed conditions could be genetic. This was a revelation to me, one took 38 years to realise.
Discovering Your Tools
Many undiagnosed and chronically ill patients will have learned that there is no “one-size fits all” solution to a complex medical condition. For me, the best fit was to dig in, do the research, and try to find my own set of tools to help me understand my body, learn how to care for it, and learn the language I needed to know to engage more effectively with clinicians. I wish I could say to patients and the families of those with undiagnosed, rare, or chronic conditions that there is a simple checklist or ready-made toolkit to help reach the best outcomes – but there is not. But don’t despair. In the year 2020, genome sequencing technology becomes more affordable than ever, allowing more individuals and their loved ones access this vital tool.
Sequencing as a Tool
During my diagnostic journey, I came across Whole Genome Sequencing (WGS) by way of Dante Labs. The novel idea of owning my own DNA profile and being to use that data in multiple ways was exciting to me! By now, you’ve probably heard about direct to consumer WGS testing companies that offer loads of information like your ancestry, health and wellness information, drug interactions, and more. This is great information not only for undiagnosed and rare patients but for anyone who wants to target their health concerns more accurately.
After doing my own research, I chose Dante Labs for my WGS testing. At the time, there were few affordable WGS companies and reports available were not as expansive as they are today in 2020. I felt that Dante Labs was a good fit for me due to my own data concerns and the level of reports that Dante Labs offers.
I opted to have my whole genome sequenced rather than just my exome, which is about 1.5% of human DNA, because I wanted to have all the information. While many may say that your genome is full of information that is currently not completely understood and full of genes of unknown significance, I believed I’d be playing the long game and wanted to have 100% of my available data.
The Dante Labs WGS kit was about three times the cost of the popular exome-only DNA kits that have been widely available for quite a few years now – many of which you’re probably familiar with and give you a sliver of your data. Despite the kit being an investment, I felt like it would be perhaps one of the most important investments I could make in having as much information about my specific health profile as possible – and I wasn’t going to get what I wanted for $99 from well-known genetic heritage related kits.
The Report Options
Through the process, I learned is there are significant differences between the consumer test options and their reports. The differences are more than just the price tag. For instance, some look specifically for more common conditions and give you very basic and limited risk factors or health data. It’s not a bad thing, but it is not enough for many complex, undiagnosed or rare disease patients. From my personal experience, I learned that the hard that general dietary changes or common medications are not always well tolerated or helpful. Dante Labs offers more extensive reporting than other companies with products in the marketplace today. For patients like me, these reports could hold valuable and actionable information.
There is a Lot We Don’t Know – Yet
You might be saying, “That’s great but why pay a few hundred dollars if the reports aren’t going to unlock all the mysteries or give me a definitive diagnosis!?” Good question.
The truth is, patients still need human eyes and minds to help us arrive at the right conclusions and receive the clinical support we need. We also need more data to help clinicians use the reports you will receive from Dante Labs more confidently.
In my opinion, one of the keys to making WGS significantly more useful to clinicans and patients is patient participation! If we don’t contribute our data, how can researechers learn more about the significance of possible candidate genes?
Services like MyGene2, a free gene matching service and supporter of Dazzle4Rare, can help those who have possible candidate genes. However, if we hold onto our possible candidate genes and don’t use that information to help enrich existing databases open to researchers, we’re really not taking full advantage of what WGS has to offer. Research-lead services like MyGene2 offer patients an opportunity to network and potentially connect with interested genetic researchers. This will help more patients and families uncover the secrets of these genes of unknown significance and possible candidate genes.
The “Ah-Ha” Moments with WGS
I personally found that the raw data I received on a hard drive from Dante Labs was a treasure trove of information! A savvy patient will realize quickly that there are platforms available where you can upload your raw data file and run your own reports – some free, some paid, and filtering by the factors that are most relevant to you. The power really can be in your hands and the options for learning about your genome are expanding each year. Dante Labs themselves also update their reporting frequently which you’ll receive updates via email about. These are worth monitoring as time goes on and is a tremendous added-value.
The Time is Now
As I said above, future families and patients need you and your data! To be clear, undiagnosed and rare patients must be willing to voluntarily provide their WGS data to gene matching services and participate with geneticists to advance the world’s knowledge of what these genes do. We’ve barely scratched the surface of what the human genome has to offer and the ways we can use it to tailor therapeutics and treatments to patients. I know this is an area fraught with distrust, so I suggest if you have questions, reach out to Dante Labs and ask – they’re very helpful! If you plan to share some potential candidate genes with a gene matching service, read their policies carefully and always ask questions – there are some great services available but always do your own independent research to determine what is best for you or your family.
Quantitatively speaking, we only have actionable information on a few genes and their variants – out of 20,000 to 25,000 genes! We need one another to contribute this information to databases open to research so we can grasp a fuller. We won’t know more if people don’t take a leap of faith.
I’m also suggesting that not only undiagnosed and rare patients participate in genome sequencing and data sharing but also healthy people! We need people from all walks of life and varied medical histories. If more people were to participate, researchers worldwide could help us understand what these genes mean. The positive implications are endless. While WGS is still very much an unknown frontier, it is one that will change medicine dramatically in the coming years.
Consider the Implications Carefully Before You Decide
Sure, there are implications like, “do I have xyz-deadly disease.” It’s important to know yourself and to exercise restraint – don’t jump to scary conclusions. There are going to be patients who identify a gene and what we know so far and become worried and anxious. I don’t recommend spending hours googling genes and symptoms! Seeking out good counsel when reviewing and acting on your results. At the end of the day, having your data is powerful, and can be game-changing for patients in the future, but it can also lead people down a “rabbit hole.” To avoid that rabbit hole, I suggest evaluating genetic counselling services.
( Kimberly Thomas-Tague @dazzle4rare on Facebook/IG/Twitter)