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What defines a person?

February 11, 2014 Leave a comment

After reading this post from the GenomeWeb (, I feel a need to further the discussion. For my personal and professional interest, which is to help parents have healthy babies, it’s important to ask ourselves: what defines a person?

Well, according to the post, “Yeshiva University ethicist David Wasserman says there is no obligation to use preimplantation diagnosis for adult-onset diseases, noting that such a stance would argue that people like Baxley shouldn’t have been born”. I have trouble with the flimsy argument here. To me, the Baxley’s should and would have been born, but they could have been born free of serious diseases, no matter it’s adult onset or not. If a disease has a clear genetic cause (I’m not talking about BRCA induced cancer risks here), and such cause can be tested to ascertain clinical manifestation, there is every reason and maybe even obligation for parents to eliminate such risks for their unborn child. Let me ask this: is there any parent, when presented with a true choice ahead of time, would rather have a child with a serious disease? On the flip side, is there any patient with normal intelligence (not to mention the numerous genetic disease that affects development of children), when presented with a true choice ahead of their life, would rather stay diseased? Or further, is there any patient with normal intelligence, when presented with a therapy that could cure their disease with no side effects (the perfect scenario as would be on an individual basis when pre-natal/pre-conception diagnosis are done correctly), would say, I choose to stay diseased? I don’t expect to have no outliers in the world who would not think like most others, but I think the answer should be clear to most people.

So, Baxley’s, when powered by current technology, could have lead a much happier life without the haunting diseases. I guess one would argue that Baxley’s, after pre-selection, are not the same Baxley’s that would have been born! This leads to my tagline question: what defines a person? To me, it’s not the hardware. It’s not about the genetic make ups that makes a unique person. It’s the growing up in a loving or not loving family. It’s the good or bad memories. It’s the kind or cruel personalities. It’s how this person thinks and interacts with the world that defines a person. When the Baxley’s are born, they’re blank papers, and their parents/teachers/friends/society around them shaped them into who they are. The paper itself didn’t. On the flip side, if the paper were tainted to begin with, or even torn apart, wouldn’t you rather choose a blank paper to start your artwork?

People argue about keeping diversity. Good. That’s often used as an ultra important argument when “ethicist” randomly accuse of people to be “eugenicist”. We know evolution means the bad is naturally eliminated and the good is naturally kept and flourished. What’s the point of keeping the bad when it’s meant to be eliminated? Again, I’m not arguing for genetic risks such as inherited BRCA mutations. I’m arguing for known single gene mutations that are firmly linked to serious diseases (Tay Sachs, for example). Who’s to say that in order for “diversity” to be maintained, that certain children are meant to be born with debilitating diseases, that certain adults are meant to be cursed even if it’s adult onset diseases? People use Van Gogh as an example of a diseased genius who may not have existed (and left so many astonishing artworks behind) if technology existed for his age. Well, who has asked Van Gogh whether he likes himself to have the disease and make the greatest artworks? Just because we, the “others”, want to keep the “diversity” and enjoy/appreciate such artworks, do we have the right to tell Van Gogh: you’re meant to be a great artist, though you’ll suffer personally and commit suicide sooner or later, but for the contribution to the mankind, please, sacrifice yourself!? And for people arguing lightly that “diversity” is important to keep and therefore no pre-natal/pre-conception genetic analysis should be done, have they asked themselves whether they would like their kids to be diseased? I know of Down Syndrome parents arguing that “the journey was so extraordinary that I would choose to do it again if I had a choice”. Not to discount some of them giving the comment because they truly appreciated the journey, but there is definitely a very selfish motivation for some of the others to raise that voice because if no Down Syndrome testing is done prenatally, there would be more Down Syndrome kids, and together the Down community would have more arguing power to gain more support from the society. For their kids, that’s beneficial, but this is dragging more innocent families into the community irrespective of whether they like it or not (and guess what, most of them don’t). On the other hand, in the autism community (which is known to be complicated for an accurate genetic diagnosis), due to the difficulty in diagnosis, many many families are afraid to have more children because of the unknown risk to have yet more autistic kids, and therefore had to lead rather depressing lives without the hope of a healthy kid in the family. 

I’d rather we don’t have the Van Gogh’s and their masterpieces. Most of us are meant to be normal people. Asking individuals and their families to go through suffers that could have been avoided, just for the good of the “diversity” of mankind, is a different form of cruelty to me. Life is and should be an exciting journey, and the world already provides a lot of astonishing diversity. Evolution doesn’t stop simply because we’re trying to have healthier kids.

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Save from the drought

January 24, 2014 Leave a comment

A few friends poked me and wondered why I haven’t been publishing any thoughts for so long. To be honest, finding the courage to publish one’s thoughts (though in a small circle) is not always easy, especially in a controversial field. There is never a shortage of topics (e.g. see the recent debates about 23andMe and the FDA), but true insights are rare as it’s so hard to get the full story.

I came across this in GenomeWeb today, and thought I’d share it here ( The original NEJM article is here

This ethics debate has been going on for quite a few years (or maybe even decade now), probably since the first use of high resolution array technology in the reproductive medicine field. Is there a right or wrong answer? No… or else it doesn’t belong to the ethics topic but rather a legal topic. My personal stance on this subject is, people have the basic human right to know themselves in any details, whether that’s through a commercial company or by themselves (yes, I can easily take some of my blood or a cheek swab and sequence myself), and no one has the right to pose parental control over others even if those ill-informed. I hate it when people say, under the cover of ethics or what not and in a serious but definitely condescending way, “we can’t just … because of the ethical concerns of …”, which often translate into, “you don’t understand what you’re getting and how to use it, and therefore you shouldn’t have it since it can hurt you”. Doesn’t this sound like a father telling his boy that he can’t get the new Xbox because he may waste too much time on it?

Coming back to reality… “if it were easy, it would have been done already”. To venture a business to help all parents have healthy babies, it is critical for an entrepreneurial team to understand the current situation, and find an innovative business model rather than relying on existing models to build a biotech company.

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A very good article to read

April 29, 2013 Leave a comment

And a very good blog to follow. I came across this a few weeks back, and I think it’s interesting. See for yourself the postmortem analysis of a once-promising diagnostic company:

Then another piece about the dire outlook in MDx startup financials:

Very interesting points. Not so cheerful for an MDx area professional to read, though… the perspective from a sharp investor is very refreshing to me, especially one that has such a deep knowledge of the specific space.

The more I read, the more I feel about the pressure to write anything new… There IS one piece about Veracyte I want to write, though, which is the company that I currently work for, though I’m still struggling to wrap in my head how to relate its excellence to the reproductive health sector for my personal interest.

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Will hospitals take sequencing in-house?

October 24, 2012 Leave a comment

As entrepreneurs explore business models, this is an upfront question to consider. When sequencing instruments, cost, and analysis burden decreases dramatically, will the hospitals want to internalize all of the sequencing testings? In different parts of the world, the answer can be quite different, and a company’s business model must conform to the market it’s trying to address. It depends on quite a few factors. For hospitals, the end users (physicians) most often care more about getting good data. This makes the outsourcing model very attractive, considering all the equipment cost, maintenance, depreciation, staffing & training, labor, other overheads, etc. that are associated with taking sequencing in house. Besides, there will always be the analysis burden that may never be completely automated (or in another trendier word, the analysis will always have a personalized part). There is also a potential capacity issue (although it’s more related to research projects involving many retrospective samples). The other big factor is in the potential need of fast turn-around, where delivery to service provider and wait for result may become intolerable. Currently, all service providers have long turn-around time. In this arena, models like what the current 3rd party diagnostic companies do (LabCorp, Quest, and numerous others) may serve as a good starting point for business analysis, but it’ll be dangerous to extrapolate too much: what works for LabCorp in the current landscape may not be suitable, since WGS is a monster that has no analog before.

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The Union of the GI’s

September 25, 2012 Leave a comment

A couple of friends asked me about my comments on BGI’s move to acquire CGI. After a long brunch with a BGI executive and a phone conversation with Steve Dickman, the CEO of CBT Advisors and an Xconomist, I figured Steve’s new blog would be a much more thorough analysis than the one I was going to write. Since it’s now published, hot off the press, I highly recommend that you read about it here:

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When will consumer genomics become mainstream?

September 20, 2012 Leave a comment

The way I see it, whenever whole genome sequencing cost drops to more affordable level with decent accuracy and robustness, there will be a blast of new business popping up to target the utilization of consumer genomics. This may very well happen in the next year or two, and in fact we’re already seeing the pre-game shows. When people can afford to pay out of pocket, the regulatory enforcement becomes weaker since there’s no longer a key reliance on the current healthcare system including insurance coding. The regulatory pressure to companies like 23andMe is, in my opinion, problematic in some ways: consumer genomics will likely only provide information to people, and efforts to regulate such areas with considerations of people’s reaction to it, be it good or bad, is a very intangible and vague goal. Trying to heavily regulate such information release is to some extent like depriving people’s right to know that smoking is harmful. If everybody has the right to know that smoking leads to lung cancer, everybody should have equal rights to know that he/she has a BRCA1 mutation. Some might argue that the sequencing detection of mutation may only be, let’s say, 99% accurate, and what about the 1%? Well, what’s the percentage of smokers who develop lung cancer before they die, is it 100%? A very critical point is, if there’s a biomedical technology advancement that will benefit 99% of the people (I would even argue 95% or 90%, depending on the target indication), there should be a way to put it to good use. Looking at the big picture, where healthcare cost saving and society burden relief from the majority of the cases clearly outweigh the negative consequences, the focus should definitely be not only on how to address the minority, but also on how to put the technology to good use.

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Regulatory environment impact on the adoption of whole genome sequencing

August 25, 2012 Leave a comment

Another question posted was:

  • There has been a lot of uncertainty surrounding the regulatory environment for consumer genomics. How do you see that changing in the future, if at all?

Here’re my two cents. The debate on regulatory strength around consumer genomics will seemingly continue for quite some time. Over all, I see the current regulatory rules as outdated, and can’t handle the genomics based clinical applications in a fair way. For new concepts and areas such as consumer genomics, taking caution is very necessary. The vast and overwhelming information can very well be misused and cause undesired consequences. However, simply rejecting the equally overwhelming benefit from the past two decades of innovation in the genomics space is unacceptable practice. In a bigger picture, the whole world is moving forward in applying the latest genomics advancements to clinical improvements, especially in developing countries where the regulatory system is not yet well established (one can easily read it as ‘cumbersome’). The ‘lack’ of complete regulatory system can work in the favor of innovation, and the knowledge base coming from NIH’s investment into the genomics world (and, of course, US tax payer’s money) are nurturing such innovations. If the FDA doesn’t realize this, and if the genomics community doesn’t act enough to push FDA in making changes, innovation in the US will continue the trend of decreasing and ultimately get suffocated. The US will lose one more leadership over the world in biomedicines.

Good news is that the FDA is indeed trying to catch up by issuing new guidelines and soliciting feedback from the academic and industrial community. I do think the FDA regulations will change much in response to the wake of consumer level genomics, but the worry is whether the rate will be fast enough as we in the field wish for.

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