Birth defects continue to be a major challenge in Canadian health care, affecting 3-5% of newborns, and the impact of these birth defects on the levels of infant mortality and childhood morbidity are profound. Although it is unlikely that we will ever be able to prevent birth defects entirely, research tells us that there are still many ways in which we can reduce the risk of our children having a birth defect.

Birth defects are disabilities and disorders that are present in an infant from the time of their birth. They affect approximately 1 in 25 newborns each year. 1 in 5 newborn deaths result from birth defects primarily due to defects of the heart, lungs, brain, and contribution of genetics. Since birth defects have such a profound impact on both the lives of families and society as a whole, it makes sense that a lot of effort is focused on treatment and prevention.

Not long ago the full genome of a humpback whale was decoded. The decoding of the humpback whale DNA was significant - it provided some clues on why whales have extraordinarily low rates of cancer. The big question that comes to mind is, can we use this understanding to our advantage? Could we use what we learn from nature to purposefully alter our own genomes to enhance our health?

Part of modern medicine’s benefit in the childbirth process is the array of medications available to a mother during labour (depending on her requirements). A client of Merogenomics who has undergone full genome sequencing, later became pregnant and wondered if her collected DNA data could be used in relation to any medications that might be provided to her during the childbirth process. In other words, is there any evidence that person’s DNA could be used to specifically personalize prescriptions and the dosing of drugs used during childbirth?

This is a second article of two dedicated to reviewing 23andMe DNA based health reports. We continue the 23andMe review with what impresses us about their process, what does not, and where should medical doctors stand when it comes to 23andMe results.

The 23andM test is currently one of the most famous DNA tests in the world and one of the most purchased ones. It was originally started to ascertain ancestry information. Now 23andMe can also offer health and wellness related information based on personalized genetic information testing. The health related portion of 23andMe tests can be divided into three components. The first one is wellness information which includes still experimental information related to weight, sleep patterns, certain dietary concerns, etc. The second and third health related components of 23andMe tests are referred to as “Health reports” and are the primary reason and focus of this two-part 23andMe review: they are the “Carrier Status” and “Genetic Health Risk” reports.

If only one of the two genes is mutated, the person is considered a carrier, and typically is not affected by the disease. In essence, the other good copy of the gene inherited from one of the parents rescues the deficiency of the broken gene that was inherited from the other parent. But DNA mutation carriers can sometimes exhibit some disease symptoms too. The patient’s understanding of their history might have to act as the guiding parameter, judged by the test ordering doctor if the condition should be further screened for or not.

When you are planning to sequence your whole genome, decoding the sequence of your entire DNA, reproductive planning might not be on the top of your list of motivating reasons in which to do so. Many might not even appreciate that is actually one of the major benefits of genome sequencing. It allows figuring out how partners who want to have kids can match their DNA against the odds of passing on mutations to their children that could cause diseases.

Currently however, genome sequencing for health screening is still uncommon, as the technology is still fairly new and not many people can yet grasp the value behind the test. Therefore Merogenomics is very proud to have participated in what we believe to be the first example of a Canadian family to have used full genome DNA sequencing for health screening purposes. This included 5 family members spanning three generations: a young husband and wife couple, both of the husband’s biological parents and a grandmother on his father’s side.

If you or someone in your family has been diagnosed with a genetic disease then chances are you’ve already heard of genetic counselling, but many people have not. Genetic counselling is a very unique service provided in the healthcare industry. In a system that is focused on diagnosing and treating as many patients as possible, many doctors simply don’t have the time to sit down with their patients and help them understand all of the components of genetic disease and how to adapt to the changes in life that disease brings. This is where genetic counselling comes in. Being confronted with a genetic disorder can be a very overwhelming experience, and if you’ve found yourself in that position it is likely that you will have many questions.

This is part 2 of a series dedicated to discussing topics related to the steps to be taken or considered after you have sequenced your genome. Looking at your insurability and the potential legal consequences are the topic of this post.

You have the genome sequence results in your hands. You now have access to your biological code of life, the DNA code, and its current clinical interpretation. What happens next depends on why you sequenced your DNA in the first place. If it is a test to collect medical information about yourself, and if we assume that you are doing it primarily to benefit yourself, then the ultimate purpose of DNA testing for health predispositions or disease diagnosis is to persuade you to change your behaviour!

The maximum lifespan of a given species, along with its particular aging process, is believed to be rooted in genetics. With the introduction of technologies that allow for the decoding of entire human genomes, it is no surprise that anti-aging research is currently exploding. If aging is built-in into our DNA program, then without a doubt the most controversial approach to anti-aging would be to remove the program from our DNA. Is that even feasible?

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.