One of the most frequently-used arguments against direct-to-consumer or direct-to-provider (as in a doctor acting on a consumer’s behalf), DNA sequencing tests is the much-touted lack of the demonstrated clinical utility of such tests. I always somewhat scoffed at this argument, because I saw it as a form of a “chicken-and-egg” type of situation. I obviously agree that consumers need to be protected, and not sold bogus tests that do not provide any benefit. However, on an individual basis, the clinical utility of extensive DNA sequencing tests has been demonstrated copious number of times. But it is true that it has not been demonstrated on a population scale. The good news is that scientific data has been trickling in.

If mutagenesis is required for the survival of the species, and diseases that are found in the population arise due to such mutagenic events, then could disease prevalence in the population be a sign of a species’ ability to adapt to a changing world? For the survival of a species, a certain threshold level of mutagenesis is needed. Beyond this threshold, if mutagenesis were to be too frequent, the resulting level of diseases could endanger the species by overwhelming its capacity to successfully thrive and reproduce. If the mutagenesis level is far below such a threshold, then it endangers the survival of the species by leading to species DNA that is not versatile. The lack of such versatility could expose the species to rapid eradication because not enough members would be adapted to a completely new environment in order to ensure its ability to thrive. Think of dinosaurs. Or any currently endangered species that has a very low number of individuals. A simple virus infection could wipe such a species out of existence at this point.

Cancer is specific to each person, in theory no cancer is ever the same, and the molecular profile that drives the cancer development can respond to a specific therapy targeted to those specific broken molecular pathways. Dozens of drug options are now available to specific cancer mutations, paving the way towards the concept of personalized medicine, therapy tailored specifically to each patient’s needs. This is one of the greatest outcomes of the Human Genome Project.

The complex traits you inherit exist due to a confluence of many different genes and other areas of your genome, dozens, or even hundreds, of different tiny or big variations dispersed throughout people's genomes. To give you some familiar examples, coronary heart disease, type 2 diabetes, hypertension, and obesity fall into this category. Another famous one is diabetes. As well as many cancers. The underlying genomic architecture behind these problems is so convoluted, that how these genome variations come together to produce the final outcome is just a mystery. So they have not entered the stage of clinical action, but as time goes by, it is expected that one day they will. Which is exciting because a sequenced genome is a genome that keeps on giving!

Nothing is ever as simple as it may first seem, and NIPT is no exception. Important work has come out highlighting some of the reasons that might lead to false results in an NIPT test, and they are fascinating. In essence, it is the fact that the majority of NIPT tests do not test for altered numbers of all chromosomes, which can mess up the results. The vast majority of NIPT tests look only for problems encountered with chromosomes 21 (resulting in Down syndrome), 18 (Edwards syndrome), and 13 (Patau syndrome), as well as the sex chromosomes. That's for a good reason, as these are the most common unbalanced chromosome counts (termed “aneuploidies”), and adding extra chromosomes into the test reduces the overall power of the test detection as compared to testing for only chromosome 21 levels (the most commonly encountered problem).

What makes a person rare? By our definition, it is a limited quantity of people, who are deemed unusually good. A rare person is someone different than the “typical” population. The rarest people then, would be those with a rare condition. Would we say they are unusually good? Are they held in high esteem? Do they receive a place of honor? I think you know the answer.

We don’t have much empirical data on the comparison effect between alternative medicine’s impact on cancer patients versus the conventional standard cancer treatment. In this case, the conventional medical treatments for cancer include chemotherapy, radiotherapy, surgery, and hormone therapy. So a recent publication that looked into the topic of alternative versus conventional cancer therapy was very important in helping to shed light on this issue. The primary results were somewhat startling, if not discouraging, but also yielded very interesting tidbits of information.

While clinical trials can conjure up a sense of fear and anxiety, it is more like a white-glove treatment experience for the participants that future users of the same treatment - once it is available on the market - will never experience.

In many instances, these experimental drug treatments might be the only avenue for some people to be able to battle the disease, or ever gain access to such advanced methods of treatment. Due to the rigorousness of the research process, all of the different phases of clinical trials where different groups of participants are treated can last more than 10 years alone, and sometimes regulatory hurdles can delay the public availability of such ground-breaking treatments even further. Thus, patients in a clinical trial can gain access to very important medication much earlier than they otherwise could have.

A new year is starting, and what better way to commence this year’s blog entry than with the recounting of the most shared genetic stories on social media in 2017. This can range in a whole gamut of directions, from the absurd to serious drama to political statements to scientific information, and is an interesting reflection of how genetic topics fascinate the public.

Imagine attending a conference dedicated around the sequencing of your own genome! A conference where every participant has had their genome sequenced, has had their results delivered, and as a part of the conference, for the first time will view their genome on an online app. And you get educated by the biggest names in the industry.

The day had arrived when I was going to see my doctor to receive my own genome sequence data and interpretation. I won't deny that I felt little bit nervous! I thought today could be a day in which I find out that I have an incurable disease, or a predisposition to cancer. Am I ready to face such truths? I have grappled with that question before, and it took me a very long time to decide what kind of information I wanted to receive from my genome sequence. Do I want to find out about having mutations predisposing me to diseases for which there are no cures? Like Huntington disease, or Parkinson's? In the end I decided yes. And there were good arguments for it.

Too often when I introduce to people what I do and what my interests are, I am met with a reaction of fear that the net result of such work will be the modification of offspring to a desired specification, the so-called “designer babies”. I find it somewhat concerning that this is the type of thinking that people can relapse to on their first encounter with the overall concept of human genome sequencing. On the other hand, one has to respect the notion of fear displayed by the public regarding the concept of manipulation of human genomes for satisfaction of someone's aesthetic desires.

It cannot be denied that next-generation sequencing has tremendously impacted clinical diagnostic potential. If you suffer from a genetic disease that continues to be unsuccessfully diagnosed using traditional approaches (referred to as a “diagnostic odyssey”), then there is a good chance that genome sequencing will be a viable solution.

Everyone agrees on the importance of research to make medical progress. How this actually occurs is poorly understood in the general public, but it is assumed that once a treatment enters a clinical practice, it has been well researched. One of the areas of mystery is the role that research on animals plays in the progress of both human and animal medicine. But rather than getting into a debate on the ethics of animal research for human welfare, I wanted to point out a curious example in how agricultural research can also benefit human health.

There are massive studies underway in the US right now that are checking into the idea of what societal health benefits can be derived by screening babies upon birth with the sequencing of their genomes. This is a very laborious undertaking, combining the research efforts of many clinical institutions, as well as many scientists and physicians, and is scrutinized throughout the process from every angle possible. It is desirable to find out how good such sequencing would be for babies to be healthier, how accurate the process could be, how dangerous, how costly, and what impact can be expected. It will require many years of examination to bring all of the necessary data required to guide future health policies and standards.

Cancer. That dreaded word. No one ever wants to hear it. We all know how deadly cancer can be. So when I found out that a friend of mine was diagnosed with a recurrent form of epithelioid sarcoma, my heart sank. Because I know this woman, and I really like her; she has a kind heart, and is always sporting great smile. I felt so helpless. But I study the use of next-generation sequencing all the time and I already knew that the use of genome sequencing has had a valuable impact in the molecular understanding of different cancer types, including selecting the proper treatment type. I did not hesitate for a moment and I let my friend know what I knew, what I believed.

One genome-related newstory that has stirred the public lately was last year’s announcement of a project to synthetically build a human genome. What do I mean by that? To build an entire human genome, the DNA code that makes each individual unique, with a machine base by base, chromosome by chromosome. You can imagine such information elicited quite a few gasps among the bewildered public.

Our cells continuously die or are destroyed, and as they are broken down, their genetic material can be released into the blood stream. Once in the blood, the circulating DNA will be cleared up in matter of hours, but it is a process that occurs on a continuous basis. This allows for a constant supply of DNA to be in circulation, whether it is that of the mother, or of the developing baby.

Everyone in the world is familiar with cancer. It is hardly possible to journey through life and not encounter a story of someone who knows someone with cancer. We all identify emotionally with it to various degrees, ranging from fear to empathy. So this is a serious and important subject to be analyzed. And in this study, we are looking at the mortality rates within 30 days of breast or lung cancer treatment initiation. You may think, hey, this should be big news, and it was, but not for the reasons you might expect.

The word value is tricky as it can have very different meanings to different people. It can be monetary, but it can also have a deeply personal value. In this post, we will look at value from multiple angles. How does the public see the medical utility value of genome sequencing? How does the public see the personal utility value of genome sequencing? How does the public see the cost value of genome sequencing? 

Which one of these values would be most important to you: medical, personal utility, or cost? It is not a trivial question to answer!