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Color Genomics raises $45M to provide genetic tests that detect cancer risk

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Re: Color Genomics raises $45M to provide genetic tests that detect cancer risk

#2
This is border line academic imperialism. The founders seem to think that software engineering and data science applied to biological data will provide insight that traditional biology has not found. Unneccessary screening from a single dimension (genome) is only going to misguide patients into oppurtunistic drug companies and non-FDA approved remedies.

We are still unsure of the nature/nuture problem. What if the environment is more attributable to cancer development?

Re: Color Genomics raises $45M to provide genetic tests that detect cancer risk

#3
post #2

This is border line academic imperialism. The founders seem to think that software engineering and data science applied to biological data will provide insight that traditional biology has not found. Unneccessary screening from a single dimension (genome) is only going to misguide patients into oppurtunistic drug companies and non-FDA approved remedies. We are still unsure of the nature/nuture problem. What if the en…

This is just my clueless opinion so pardon me if I say something that makes no sense, but what if they get somewhere?

I don't think that it's a good idea if we end up in the scenario you just described, but what if they find something useful? I think that putting money into cancer research, no matter on what approach, is usually a good idea.

A lot of breakthroughs in history of science came from unrelated areas of research such as this where computer people are working in (at first) non-computer field.

Re: Color Genomics raises $45M to provide genetic tests that detect cancer risk

#4
post #2

This is border line academic imperialism. The founders seem to think that software engineering and data science applied to biological data will provide insight that traditional biology has not found. Unneccessary screening from a single dimension (genome) is only going to misguide patients into oppurtunistic drug companies and non-FDA approved remedies. We are still unsure of the nature/nuture problem. What if the en…

I agree with this assessment.

Cancer has genetic predisposition, environmental causes, and random chance all in enough quantity that none of these influences can be ignored.

That said, I'm extremely skeptical that this is a useful consumer-driven test. Far better to be driven by your physician who can decide if there's enough of a familial cancer history to drive the test, to potentially drive other precautions.

Germline genetic testing is useful for entertainment, or for when you have some phenotype that you're interested in investigating, or perhaps for deciding about having children.

Genomes aren't blueprints for an entire life, they're just the parts book. So germline genetic testing is not some sort of Gattaca-like predictor of a person, even if we knew what most of the genome does.

Re: Color Genomics raises $45M to provide genetic tests that detect cancer risk

#5
post #3
post #2

This is border line academic imperialism. The founders seem to think that software engineering and data science applied to biological data will provide insight that traditional biology has not found. Unneccessary screening from a single dimension (genome) is only going to misguide patients into oppurtunistic drug companies and non-FDA approved remedies. We are still unsure of the nature/nuture problem. What if the en…

This is just my clueless opinion so pardon me if I say something that makes no sense, but what if they get somewhere? I don't think that it's a good idea if we end up in the scenario you just described, but what if they find something useful? I think that putting money into cancer research, no matter on what approach, is usually a good idea. A lot of breakthroughs in history of science came from unrelated areas of re…

This is a highly computer driven field, with tons of computer scientists working in genomics. This aspect is not something where they're any more likely to have interesting results than any of the academic labs around the country that are driving machine learning methods and working closely with those that are developing machine learning methods.

Far more interesting is the data the Color will collect if they grow a customer base, which is not something that many researchers have access to. However, if they're only collecting features and not the labels (cancer incidence) then it's pretty boring data.

Re: Color Genomics raises $45M to provide genetic tests that detect cancer risk

#6
post #2

This is border line academic imperialism. The founders seem to think that software engineering and data science applied to biological data will provide insight that traditional biology has not found. Unneccessary screening from a single dimension (genome) is only going to misguide patients into oppurtunistic drug companies and non-FDA approved remedies. We are still unsure of the nature/nuture problem. What if the en…

Yes. This is going to be another clean tech debacle, a whole lot of companies raising money on a wave of buzzword (in this example, genomics, big data AND machine learning, what could possibly go wrong) hype, offering at best incremental improvements or at worst, inferior products (eg Theranos).

Re: Color Genomics raises $45M to provide genetic tests that detect cancer risk

#7
post #3
post #2

This is border line academic imperialism. The founders seem to think that software engineering and data science applied to biological data will provide insight that traditional biology has not found. Unneccessary screening from a single dimension (genome) is only going to misguide patients into oppurtunistic drug companies and non-FDA approved remedies. We are still unsure of the nature/nuture problem. What if the en…

This is just my clueless opinion so pardon me if I say something that makes no sense, but what if they get somewhere? I don't think that it's a good idea if we end up in the scenario you just described, but what if they find something useful? I think that putting money into cancer research, no matter on what approach, is usually a good idea. A lot of breakthroughs in history of science came from unrelated areas of re…

A huge thing in health care is currently the fact that many diagnostic tests turn up either (i) more false positives than true positives and (ii) diagnose things that turn out not to be true threats.

For (ii), see the debates about PSA tests. You may diagnose potential for cancer, but if the treatment causes more health problems than the disease; you've just created useless worry and costs with your test. The optimists see two things (1) better tests that could tell whether the prostate cancer is problematic and (2) as lifespans increase, the likelihood of you living long enough for the cancer to be a problem increases, so if we are trying to live forever, then the PSA test results will matter eventually.

Back to (i), the false positives. As a disease becomes more rare, the more your false positive rate matters. If a disease affects 1 in 10k people, your 0.1% FPR will diagnose 10 times as many people wrongly as it does correctly. This is pretty damn common with genetic tests.

I think you can get somewhere data mining whole genome sequences, particularly if you sequence from healthy and diseased tissues in individuals and do exome sequencing as well, but that doesn't appear to be what Color Genomics actually does.

Re: Color Genomics raises $45M to provide genetic tests that detect cancer risk

#8
post #2

This is border line academic imperialism. The founders seem to think that software engineering and data science applied to biological data will provide insight that traditional biology has not found. Unneccessary screening from a single dimension (genome) is only going to misguide patients into oppurtunistic drug companies and non-FDA approved remedies. We are still unsure of the nature/nuture problem. What if the en…

As a layperson the only genetic testing I am familiar with is the BRCA gene for breast cancer. Other than false positives and the risk of unnecessary treatment, is there a reason not to test all women for it and similar genes?

Additionally, is this company performing research or just doing testing on known factors? If it's the latter then I am not clear about why this is so objectionable. How is this company different from the others that provide genetic testing through your healthcare provider?

Re: Color Genomics raises $45M to provide genetic tests that detect cancer risk

#9
post #2

This is border line academic imperialism. The founders seem to think that software engineering and data science applied to biological data will provide insight that traditional biology has not found. Unneccessary screening from a single dimension (genome) is only going to misguide patients into oppurtunistic drug companies and non-FDA approved remedies. We are still unsure of the nature/nuture problem. What if the en…

As a layperson the only genetic testing I am familiar with is the BRCA gene for breast cancer. Other than false positives and the risk of unnecessary treatment, is there a reason not to test all women for it and similar genes? Additionally, is this company performing research or just doing testing on known factors? If it's the latter then I am not clear about why this is so objectionable. How is this company differen…

BRCA1/2 germline mutations occur at about 1/400 in the population at large. In breast cancer patients they occur at about 1/50; in breast cancer patients under 40 they occur at about 1/10.

I.e., 98% of breast cancer patients and 90% of breast cancer patients under 40 do not have cancer because of this genetic susceptibility.

This is by far the most common germline cancer mutation, and it is a severe, DNA damage repair mutation. There are few comparable mutations that will indicate such a severe risk. If you're NF1 mutant or have Li-Fraumeni (other germline cancer-causing mutations) you will have other disease syndromes before you develop cancer.

In the vast majority of cases, testing cancer susceptibility genetically will either (1) miss the largest non-genetic component of cancer susceptibility and (2) incorrectly indicate risk (i.e., a positive test does not mean as much).

Re: Color Genomics raises $45M to provide genetic tests that detect cancer risk

#10
post #2

This is border line academic imperialism. The founders seem to think that software engineering and data science applied to biological data will provide insight that traditional biology has not found. Unneccessary screening from a single dimension (genome) is only going to misguide patients into oppurtunistic drug companies and non-FDA approved remedies. We are still unsure of the nature/nuture problem. What if the en…

Elad started his career with a PhD in cancer biology prior to starting the mobile team at Google, so I don't think "academic imperialism" is an accurate descriptor.

I think you'll see more people with these hybrid skills over time. They take years to develop, though.

If we want advancement in medicine, can we really do it without deep collaboration between biology and computer science? If so, isn't Color Genomics a model of particularly deep cross-disciplinary work, not academic imperialism?

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