The primary concern and screening available for women is that for chromosomal abnormalities. Until the recent introduction of non-invasive prenatal testing (NIPT), the screening program consisted of testing for specific blood markers (whether protein molecules or smaller chemicals) and an ultrasound, in the first and second trimesters of pregnancy. According to obstetrics guidelines, pregnant woman is supposed to be clearly told about her screening and testing options, and that includes traditional approaches, NIPT and even diagnostic invasive testing. Diagnostic invasive testing carry small but real risk of pregnancy loss. This is the primary reason why NIPT has gained so much in popularity because women don’t want to undergo diagnostic testing if they don’t have to, and place their pregnancy at risk. But because traditional screening is nowhere near as accurate as NIPT, with traditional screening, lots more women end up undergoing confirmatory diagnostic testing that they would not have to if they took the NIPT test in the first place.

Francis Collins’ chief goal in writing his book, The Language of God, is to bridge the perceived gap between religion and science. In this task, he succeeds at making the case to a religious audience, that good theology incorporates new evidence; in particular, the evidence in support of evolution. Collins’ argument falls short when he draws a line between religion and science, saying they have mutually exclusive domains of inquiry. This arbitrary line he draws leads him to make some tenuous conclusions about the origin of the universe, and the emergence of morality in humans.

Being a rare disease caregiver is an intimate story of compassion, as almost all caregivers live in the same household as their care recipient, and this usually involves caring for an immediate relative. For most, it is a tale of familial love and enormous dedication, which is staggering in proportion to what a daily routine of a typical adult might be. Only 1% is dedicated to the care of non-family members. Caregivers are modern-day heroes, quietly going about their demanding lives, without fanfare, and unfortunately too often, without much support to ease their difficult duties. On this international Rare Disease Day we dedicate this post to the topic of those who take care of the people afflicted with such conditions.

Valentine’s Day is coming and that day has become synonymous with the celebration of romance, partnership, love… and potentially sex at the end of the romantic, seductive day. Of course, the reality often strikes far from the fantasy, but fulfilled sexuality is a normal expectation of a healthy lifestyle, and perhaps there is no other day throughout the year that we go to such lengths to please and seduce each other. So to celebrate this unique day, we want to delve into the genetics of sexuality!

Can sequencing at birth identify genetic findings that are potentially life-saving? Finally, the first results from the BabySeq project which investigated the impact of full genome sequencing in babies soon after birth suggest that DNA testing can uncover the risk of childhood-onset disease in much higher rates than previously anticipated, at nearly 10% of infants (9.4%). We are talking about conditions that were otherwise completely unanticipated to be present in these children based on their appearance, clinical examination, or family history. Furthermore, adult-onset conditions, which are typically not recommended to be investigated in children, were discovered at a rate of 3.5% in otherwise presumed healthy infants.

For a third year in a row, we are recounting the most shared genetic stories on social media so this has become our tradition to start the year. It is a collection of stories where the only metric we look at is the number of shares on stories about anything related to DNA. These can range from totally absurd, to very fascinating pieces of content that we would otherwise never come across if it wasn’t for this yearly review. Here are the most shared DNA-related stories on social media in 2018!

Are you a doctor who wants to adopt genomic medicine now?

Are you a doctor who has already introduced the use of DNA sequencing in your practice to assist your patients in their medical care, and want to make sure that the technology is used safely for the benefit of all patients?

Or are you a doctor who simply encounters DNA sequencing test results, and wonders about the validity of the results or the safe practice use of such results?

The following are the three most basic, but critical, steps to help you ensure safe practices, protect your patient from the harm of any test misuse, and at the same time, protect yourself and your practice from liability.

So you want to sequence your genome, all of your DNA, and look deep into the hidden secrets of your biological code? Then you sure will want to get quality information! It is easy to get excited about the results, but the majority of people who purchase any type of commercial DNA sequencing test, and even many of those selling it, actually have a poor understanding of the complexity of the process and the meaning of the results. With the speed of new DNA sequencing tests coming onto the market (at least 10 medical DNA tests are released per day, and who knows how many non-medical tests), many of them, if not the majority of the available tests on the market, will be providing DNA results that do not have any scientific validation, and hence no actual utility apart from having a bit of fun. However, while you are having some fun, you have to remember that you are disclosing access to your most private and precious biological information, your DNA. Instead, DNA information should be closely guarded by families, and retained for serious medical needs.

When it comes to the news in genetics, very few blockbuster headlines come out that can be compared to the degree of what was announced this week from China: researchers declared the birth of the first human baby that was genetically modified prior to birth. We are ushering in the era of designer babies. It was not that long ago that we discussed this topic as a too distant possibility to merit serious discussion. Indeed, not that long ago it was not. It is incredible that in a mere few years, China has made such leaps in the use of genome editing technologies to start experiments on human subjects.

The current prevailing theory is that drug resistance in cancer is caused by the heterogeneity of cancer cells, meaning that cancer itself is made up of many differently mutated cell types. So that while a specific drug may kill off the bulk of the cancer cells, in this mixture of cancer cells, some cells will already have some resistance to the drug from the start, and eventually will flourish. This is why the current concept for the best cancer treatment option is to use a combination therapy of multiple drugs to ensure that all of the cancer cells are targeted. There is another possibility that is actually quite fascinating, and that is that cancer cells can mutate themselves in order to acquire resistance.

October is breast cancer awareness month and lots of activities are happening in support of educating women about the best protection against this disease. In no other group is this more relevant than to women with the inherited predisposition to breast and ovarian cancer. Breast cancer now boasts a very high treatment success rate. The treatment of breast cancers has been so successful over the years, that scientists and clinicians are finally discussing the possibility of starting to mention that certain cancers can indeed be cured. So where does the inherited cancer predisposition fit into all of this? 

There are two types of technologies used to sequence genomes, any genomes. The most common one takes the genome that is cut up into millions of short fragments, and it is these short bits of your genome that are all being decoded by the instrument all at the same time. Computers then put all of these fragments back together to assemble your genome by comparing with an existing reference of what a human genome looks like. Basically imagine if you shredded a book in one of those office shredding machines, and afterwards you had to put it back together. Except that for a human genome, you wouldn’t be shredding one book, you would be shredding a whole bunch of bookshelves worth of books, and then putting it back together. On the other side of the spectrum is a long read DNA sequencing technology. As its name implies, it is a technology that can decode long stretches of DNA at a time. In this case the equivalent would be to try to put the book together with entire pages intact, as opposed to everything being shredded.

While authors Kirsch and Ogas impressively illustrate the laborious and quirky human process that enabled our discovery of various medicines, they fail to distinguish the limitations of the pharma industry's role in treating mental health.

Very little scientific data has come out to assess the utility of genome sequencing in healthy people. While thousands upon thousands of papers have been published on the use of DNA tests in helping to diagnose conditions in order to help manage existing health problems in the population, very little attention has been paid to healthy people sequencing their genomes, despite the fact that thousands of people have already done so.

One major question one could (or should?), be asking themselves is, “what are the odds that if I sequence my genome I will find a health risk result?” Or in other words, a result that shows that a person harbours a pathogenic variant that is indicative of disease development. This is still a huge source of contention, and science is continuously pouring in to determine what mutations can truly be associated with disease, as well as how frequently such incidental findings about a threat to your health actually do occur in a population. As more humans have their genomes sequenced, some repetitive patterns begin to emerge.

The world of genome editing is heating up. Since its invention in 2012 of the targeted Cas9 gene editing system, the procedure has garnered massive funding and attention, and it is no wonder, as the potential medical implications are obvious. Quietly in the background, human embryo experiments are already occurring, setting the stage for what might be expected in the near future.

Personalized medicine: you have to admit these words have a very good ring to them. It is probably what everyone thinks they are getting whenever dealing with a doctor, although the reality often falls short of that. While obviously every doctor will treat each patient with an individual approach based on their past history, it is not easy or cheap to dish out diagnostic testing to collect personal medical data to manage treatment. Therefore the amount of such testing will be governed by the amount of money available to pay for such tests for everybody. However, personalized medicine has a more defined niche.

Tazemetostat is a drug for patients with specific genetically-defined tumors. This is how the future of both clinical trials and personalized targeted therapy is going to be defined. Well, perhaps more accurately, that future had arrived a long time ago, it is just that unfortunately not many oncologists are yet aware of or know how to apply such medications. But everything requires its time to mature, and eventually all of our oncologists will be sequencing patient cancer DNA without a second thought.

DNA, the history of its discovery, and our ability to manipulate it, are the subjects of Mukherjee’s latest book, The Gene. The story of the gene is a journey across time and scale. Mukherjee eloquently animates the intertwining strands of history and science to demystify the gene and its discovery. He shows the idea of the gene proved to be elusive and counterintuitive to early thinkers. Its discovery was both “dangerous and exhilarating.” Unravel the language of our genome, and you discover inherent limitations of its perfectibility. Mukherjee manages to bridge conceptual gaps in our understanding of our own source code, and situate the reader in debates on the frontier of biology.

While we are facing an ever increasing number of cancer patients to deal with, the corresponding number of oncologists to meet these needs are not increasing at the same rate. One scientific study that investigated the problem concluded that by 2025 the need for oncologist services will increase by 40% in the US (accounting for more than 83 million visits with cancer specialists), but the number of oncologists to meet these demands will increase only by 25%.On top of that, another study stated that half of the American practicing oncologists could be retiring by 2020. So we are faced with a very serious situation of a shortage of oncologists in the near future, which very likely will negatively impact cancer patient quality care, and exhaust our oncologists.