Market segments: reference labs, sequencing technology companies, bioinformatics companies, data storage companies.
How do we get all this implemented into healthcare?
Why isn’t insurance paying? Researchers are publishing conflicting information on many questions, ethics, costs, accuracy, etc. NGS is not a validated test.
Rare disease is a huge problem
Lots of genes… lots of possible errors, therefore many possible combinations. Diagnosis can be far off – 8 appointments, 7 years average.
How much of the genome should we test? 80% by Encode. Exome is 1.5% of genome. Which would you pick?
Panels are standard, but only useful relative to clinical phenotype. Whole genome adds value over time.
Need WGS and bioinformatics to solve value of non-coding. We need the data in the non-coding to make sense of it all.
3000 genomes at St. Jude’s life. But how do we do this clinically? Example: can you find genes for developmental delay. 376 families (primary trios). 339 family done -just past 100 diagnoses this week (102.) 28% diagnosed.
Families not diagnosed are open to reanalysis…. can revisit the data over and over again.
Also part of Undiagnosed Diseases Network. This is about patients.
Genetic tests is largely underused. Policy is state by state – mainly because we’re still arguing over how accurate the data is. Literature shows we’re not completely accurate, different labs are getting different results. Exomes are being funded, but Genomes aren’t. Doesn’t make a lot of sense.
Picking on insurance companies. Lets start getting companies to pay for sequencing.
Is it really that inaccurate? Lined up Baylor vs Hudson Alpha – not easy to do an apples to apples comparison. Do they come up with the same thing: There will, of course, be differences. However, the analytical teams both came down to the same variants being diagnostic.
Reproducibility: It’s possible, requires new tests, still evolving. More genomes -> More accuracy.
What data to return?
Have a lot of ethicists at Hudson Apha – Options are presented to parents: Primary, Child no Rx, Adult Action and Adult-No Action.
Asked audiences: 31% of geneticist based audiences say yes, they want it, compared to ~50% of lay-people. Not all that different.
Huge implications: ethical, legal and social.
Some paediatric geneticists consider “diagnosis” as “actionable” because it prevents you from having to run from place to place.
They way you view the data influences how you interact with it. Personal decisions/Personal Medicine. Precision medicine is for physicians.
Many excellent examples of where genomic medicine would have been really helpful and either saved lives, saved money or prevented suffering.
Roi is impressive.
Average workup for patients at each new hospital on your way to diagnosis is $20,000. If it takes 8 hospitals on average to get a diagnosis, that’s a huge cost.
WGS can be done once, and re-used over and over.
Healthcare is about taking averages. Dosing is based off of averages, is it always useful that way? No.
Rolling out Insignt Genome, being driven by utility. What data will people use? On average, very few variants will have a major effect at the population level. Physicians make decisions every day with incomplete data.
How do we get the system to care?