@womensresearch team presents in Portugal for #IPV2015. Reports HPV vaccine safe & well tolerated in study of 353 women &girls living w/HIV.

Posted in Uncategorized | Leave a comment

Will vaccinating pregnant mums protect newborns from whooping cough? Research study to find answers.

Vancouver – January 23, 2014

Pertussis VaccinationResearchers hope that vaccinating pregnant mothers against whooping cough will transfer protective antibodies to babies before birth and then afterwards through breast milk.

Babies in British Columbia are vaccinated against whooping cough (pertussis) as part of the childhood immunization schedule that includes a single vaccine against diphtheria, tetanus, hepatitis B, polio and haemophilus influenza type b. The vaccine is provided to babies in three doses at two months of age, four months, and six months. Children receive a booster shot at 18 months and again between four and six years of age.

However, during the first seven months while infants are developing their immunity in response to the vaccine, they are vulnerable to the bacteria that causes pertussis.

Dr Money and Dr Dobson

Dr. Deborah Money and Dr. Simon Dobson

“The whole strategy is to have lots of pertussis antibody at birth to tide the baby over until the vaccine can be given at two months,” says Dr. Simon Dobson, an investigator with the Vancouver site of the national study. Dr. Dobson is a clinical investigator at the Child & Family Research Institute, infectious disease specialist with BC Children’s Hospital, and head, Division of Infectious Diseases, Department of Pediatrics at the University of British Columbia (UBC).

“We are very supportive of working towards a strategy where infants can be protected through vaccinating women during their pregnancy,” says Dr. Deborah Money, who is leading the Vancouver study. Dr. Money is vice president, Research at BC Women’s Hospital & Health Centre; professor, UBC Department of Obstetrics and Gynaecology; and executive director of the Women’s Health Research Institute.

Researchers are seeking fifty pregnant women in Vancouver to participate in the study, and a total of 390 women are being recruited across Canada.  Women in the Vancouver area can find out more about the research by calling the study nurses at 604-875-2424, extension 4796.

Women participating in the study receive the pertussis vaccine during their 34th week of pregnancy, and then visit the clinic for follow up appointments that coincide with the regular childhood immunization schedule. Samples of the mother’s blood, breast milk, and the baby’s cord blood will be taken at time of delivery and then analyzed as part of the study.

Whooping cough is a serious and contagious respiratory infection that can be dangerous for infants. Most complications, which can include pneumonia, seizures, brain damage and death, happen in babies under one year of age.

This is an investigator initiated and designed study that is funded by a grant from Sanofi Pasteur. The national study is led by Dr. Scott Halperin at IWK Health Centre at Dalhousie University.

Read More:

CFRI_ClrPosThe Child & Family Research Institute conducts discovery, translational and clinical research to benefit the health of children and their families. CFRI is supported by BC Children’s Hospital Foundation and works in close partnership with the University of British Columbia, BC Children’s Hospital, and BC Women’s Hospital & Health Centre (agencies of the Provincial Health Services Authority). For more information, visit www.cfri.ca.

bcchColourBC Children’s Hospital, an agency of the Provincial Health Services Authority, is British Columbia’s only pediatric hospital and home to many specialized pediatric services available nowhere else in the province, including BC’s trauma centre for children, pediatric intensive care, kidney and bone marrow transplants, open heart surgery, neurosurgery and cancer treatment. Sunny Hill Health Centre for Children is the provincial facility that offers specialized child development and rehabilitation services to children and youth. For more information, please visit www.bcchildrens.ca.

bcwColourBC Women’s Hospital & Health Centre is the only facility in British Columbia caring for the comprehensive health needs of women, newborn babies and families. For more than 80 years, BC Women’s has been a leader in providing maternity and newborn health care. Averaging 7,000 births annually, we are best known as one of Canada’s pre-eminent obstetrical centres. About 20% of British Columbia’s babies are born at BC Women’s. BC Women’s also provides one-of-a-kind care to meet women’s specialized health needs throughout their lives. Our philosophy is women-centred care: we use our research and experience to develop unique programs and services just for women. BC Women’s will host a cord blood bank collection service in collaboration with Canadian Blood Services. For more information, please visit: www.bcwomens.ca.

WHRI_logoV_(2colour)_notag (WHRI) is the research arm of BC Women’s Hospital & Health Centre, serves as a catalyst for research in women’s health, and supports an expanding national network of women’s health researchers, policy makers and health care providers. The WHRI is also a research partner of the Provincial Health Services Authority and is affiliated through research and teaching with the University of British Columbia. For more information, please visit www.whri.org.

PHSA_logo_colour_jpgThe Provincial Health Services Authority (PHSA) plans, manages and evaluates selected specialty and province-wide health care services across BC, working with the five geographic health authorities to deliver province-wide solutions that improve the health of British Columbians. For more information, visit www.phsa.ca.

Colour - UBC Graphic (With Tag)The University of British Columbia (UBC) is one of North America’s largest public research and teaching institutions, and one of only two Canadian institutions consistently ranked among the world’s 22 best universities. Surrounded by the beauty of the Canadian West, it is a place that inspires bold, new ways of thinking that have helped make it a national leader in areas as diverse as community service learning, sustainability and research commercialization.  UBC offers more than 56,000 students a range of innovative programs and attracts $550 million per year in research funding from government, non-profit organizations and industry through over 8,000 projects and grants. For more information, please visit www.ubc.ca.

Posted in Our Community, Research, Women's Health | Tagged , , , , , | Leave a comment

The Cochrane Colloquium: 20 years of patient engagement

Nicole Prestley, Research Coordinator, WHRI

On September 19, 2013, I had the honour of attending my first Cochrane Colloquium, which was held in Quebec City.  The Colloquium was sponsored by the Cochrane Collaboration, a global organization dedicated to the systematic evaluation and production of evidence-based information.  Cochrane is widely known for their systematic reviews and corresponding summaries (http://summaries.cochrane.org/).

This year the Cochrane Collaboration celebrated their 20th Anniversary with a colloquium focused on “Better Knowledge for Better Health”.  Each day began with a provocative plenary session where the speakers celebrated Cochrane’s accomplishments and challenged Cochrane’s plan and priorities for their next 20 years. Through my five-day journey three common themes emerged, 1) open-access to evidence-based information, 2) evidence-informed health policy and 3) patient involvement in the research process.

One talk during the “Knowledge Users’ Perspective” plenary session on September 21st truly resonated with me, “The Intersection Between Evidence-Based and Patient-Centered Healthcare”.  The speaker was Lorraine Johnson, a member of the Patient-Centered Outcomes Research Institute (PCORI), the Chief Executive Officer of LymeDisease.org and a Co-Chair of the US Cochrane Center’s Consumers United for Evidence-Based Healthcare (CUE).

Lorraine’s talk was focused on CUE and their role in facilitating patient involvement in Cochrane research with the belief that “patient engagement is a skill, not a trait”.  Through CUE, patients can embark on a training program to familiarize themselves with the research process, language and culture. According to Lorraine, the research culture will dictate the meaningfulness of patient engagement. Changing research culture can make the difference between patient engagement and meaningful patient engagement.  In discussing culture, she used the analogy of water in a fish tank: culture is necessary, culture is everywhere and culture is almost invisible.  So how does she see the research culture changing to create meaningful patient engagement?

  1. The degree to which participants are representative of the affected public;
  2. The degree to which citizens are involved early enough to affect the decision; and
  3. The amount of influence on the decision that citizens can actually have influence on decision.

Patient engagement helps ensure that research focuses on improving patient outcomes by being demand based rather than supply based.  In this meaningful engagement learning is bidirectional where patients are involved from study design to knowledge translation (perhaps in the form of a decision aid).  It is a process in information sharing.  Patients should be involved in protocol development, reviews and lay summaries, decision aids.

My conviction for meaningful patient engagement in research comes from my mother.  After many years of battling with family doctors looking for answers and eventually being forced into retirement due to her pain, she received a diagnosis of Rheumatoid Arthritis, in 2003.  Shortly thereafter I was hired at the Arthritis Research Centre of Canada, which has an internal Consumer Advisory Board: a board of patient advocates who collaborate with ARC’s Researchers.  The patient group contributes to study design, write letters of support for funding opportunities and disseminate research to the patient community.  In 2008 my mom joined this patient group and I saw, first hand, not only the benefits of patient involvement for the researcher, but for the patient.  Being a part of this patient group connected her with others in similar situations and gave her a landscape of the type of research being done–research which could directly improve her quality of care and help others attain a diagnosis earlier.

Cochrane has consistently been dedicated to patient engagement in research; my hope is that researchers outside of Cochrane follow suit.  We can start building the bridge to the end user of any health research by involving a patient.  It takes a strong organization to host a conference and invite speakers to critique its current status and challenge its priorities for the future; Cochrane did it with poise and grace.  Cheers Cochrane, to your next 20 years!

For your own Cochrane Colloquium experience of the Plenary Sessions (including Lorraine Johnson’s talk): http://colloquium.cochrane.org/plenary-videos

Posted in Education | Tagged , , , , | Leave a comment

The Truth about your “Achilles” High Heels

Nicole Prestley, Research Coordinator, WHRI

As a member of a research institute, I have been trained to use evidence-based information to dictate (most of) my decisions.  Recently the Washington Post posted an infographic generated by the American Academy of Orthopaedic Surgeons, which illustrates the ugly, evidence-based, truth about high heels – Louboutin Lovers brace yourselves.

A pain in the knee
One of the studies looked at women’s shoes and knee osteoarthritis and found that wearing heels increase pressure on the knee by as much as 26%.  Your spine and hips also feel the impact as your centre of gravity changes and they are put out of alignment.

Pump problems
The type of shoe also matters – the tighter or more narrow the toebox, the higher the chance of developing Morton’s neuroma (pain and numbness in the toes).  Tighter shoes can also lead to the development of bunions (bony calcification around the joint at the head of the big toe).

The higher the heel…
The higher the heel, the more pressure is put on the ball of your foot; 3-inch heels can put upwards of 76% pressure, which can lead to metatarsalgia (pain and inflammation at the ball of your foot).   The higher the heel, the shorter your Achilles tendon; over time, the tendon shortens which can create heel pain.

Good news
For many Vancouverites, our feet are our transportation; the next time you leave the house, think twice about what you’re putting on them.   Fashionable foot friendly solutions do exist.  Stores such as The Right Shoe and Ronsons are a great first step towards prevention of injuries and healthier feet.


SOURCE: American Academy of Orthopaedic Surgeons, American Apparel & Footwear Association, American Orthopaedic Foot & Ankle Society, Mayo Clinic, Society of Chiropodists and Podiatrists, “Women’s Shoes and Knee Osteoarthritis,” by D. Casey Kerrigan, Jenn.
Posted in Women's Health | Tagged , , , , , | Leave a comment

What is a sexual health educator?

Sexual Health Education is about a lot more than preventing unwanted pregnancy and sexually transmitted infections. Everyone has the right to access sexual health education relevant to their needs, and that helps promote a happy, healthy and safe sexual life.

Submitted by Emily Wagner, WHRI-RID Research Manager

Sexual Health Educator Post Image

What is Sexual Health Education?

The World Health Organization defines Sexual Health as:

Sexual health is fundamental to the physical and emotional health and well-being of individuals, couples and families. When viewed positively, sexual health encompasses the rights of all persons to have the knowledge and opportunity to pursue a safe and pleasurable sexual life. However, the ability of men and women to achieve sexual health and well-being depends on their access to comprehensive information about sexuality, knowledge about the risks they face, their vulnerability to the adverse consequences of sexual activity, their access to good-quality sexual health care, and an environment that affirms and promotes sexual health.[1]

The relationship between education level and sexual health outcomes has been well documented.[2] One of the most effective ways to improve sexual health of individuals and communities is to make a commitment to ensure that everyone is provided with all of the information needed to make healthy decisions about their sexual lives. Sexual health education can be defined as the process of equipping individuals, couples, families and communities with this information, and the motivation and behavioural skills needed to enhance sexual health and avoid negative health outcomes.[3] A Sexual Health Educator is an individual who has undergone professional training to provide this education to a variety of audiences: preschool, elementary, secondary, and post-secondary students; professionals, adults, and parents, in a manner that is open, inclusive, and free of discrimination, gender bias, and stigma.

How does one become a certified Sexual Health Educator?

Anyone who provides sexual health education and health promotion in a professional capacity – teachers, counselors, health care providers – could be considered a sexual health educator. However, there is only one program in Canada that both trains and certifies individuals to deliver comprehensive sexual health education, which is offered through Options for Sexual Health. Based in British Columbia, Options for Sexual Health (Opt), is Canada’s largest non-profit provider of sexual health services through clinics, education programs, and the 1-800 SEX SENSE information and referral line. Opt has developed a comprehensive Sexual Health Educator Certification (SHEC) Program for those who wish to teach sexual health, and become Opt Certified Sexual Health Educators. Options for Sexual Health is committed to increasing the number of well-qualified sexual health educators in the province as part of its campaign to improve the quality of school, adult, parent and professional sexual health education. For more information about Opt, check out their website at www.optionsforsexualhealth.org

Why did I apply to the Sexual Health Educator Certification Program?

I first discovered the SHEC program in 2012, when Opt had an information booth at an Employee Health and Wellness Fair held at BC Women’s Hospital. I read up on the program, felt a bit uncertain and intimidated, but also, I felt excited. Uncertain because I wasn’t sure I fit the criteria for entry, intimidated by the thought that other applicants would be health professionals and teachers who were far more qualified for the course than I was, but excited because I knew I needed to apply despite these fears. As the Research Program Manager of the Reproductive Infectious Diseases Research Program, I am able to educate and empower women to take ownership over their health. I hadn’t been aware until I learned about SHEC that there were opportunities for a person like me – I am not a doctor, nurse, counselor, or teacher, but I am passionate about knowledge translation in health care – to pursue training and accreditation as a professional sexual health educator.

Even though I don’t fit neatly into the professional categories I mentioned above, when I was preparing my application to the SHEC program, I realized I do have an important role in the creation and application of evidence-based medicine and health care. I strongly believe that as a researcher, I have a responsibility and obligation to ensure that new knowledge is communicated to a range of audiences, at every stage of the research process. I am a leader and a mentor for a fantastic team of staff and students in the WHRI Reproductive Infectious Diseases program, and I am, in fact, an educator. When I answer questions and discuss health issues with women participating in our studies, when I author articles for academic journals and reports, when I contribute material to our social media profile, or when I give presentations about our research in community and academic settings, it is education.

The part of my job that I feel is most relevant to the SHEC program, is that I love being able to openly provide information about health, and create a safe environment where women feel comfortable asking questions and discussing their sexual health.

Through my work on the VOGUE project, I’ve become acutely aware that women aren’t always sure that they are normal and healthy. Maybe their body doesn’t look or act the same way as the description they read in a book, or the pictures they’ve seen on the internet, or stories they’ve heard from friends and family. Sometimes they are carrying around negative messages about their bodies that they’ve received or constructed themselves. I want to help women challenge and work through this negativity or uncertainty with my work. I view the SHEC program as an amazing opportunity to acquire the necessary training to create new experiences in alignment with what I love to do – learning, communicating, teaching – ultimately leading to new possibilities for myself and for the WHRI.


[1] Defining sexual health: Report of a technical consultation on sexual health 28-31 January 2002, Geneva. (2006). World Health Organization. Available at: http://www.who.int/reproductivehealth

[2] Developing sexual health programmes: A framework for action. (2010). World Health Organization. Available at: http://www.who.int/reproductivehealth

[3] Canadian Guidelines for Sexual Health Education. (2008). Public Health Agency of Canada. Available at: http://www.publichealth.gc.ca/sti.

Posted in Education, Our Community, Sexual Health, Sexually Transmitted Infections | Tagged , , , , , | Leave a comment

Does an abnormal or positive prenatal screen result mean that my baby will have Down syndrome?

Does an abnormal or positive prenatal screen result mean that my baby will have Down syndrome?


Prenatal screening, including a ‘triple screen’, ‘quad screen’ or ‘integrated screen’, are screening tests which are different than diagnostic tests.  A screening test tells you the chance of a particular outcome (e.g. that your baby will have Down syndrome) whereas a diagnostic test is able to tell you definitively whether or not a particular outcome will occur.

Let’s think about an abnormal or positive prenatal screen result for Down syndrome.  Since this test is about chances, your result is usually described as a fraction.   For example, you may be told that there is a 1/5 chance that the baby has Down syndrome.  This means that there is a 1 in 5 (or 20%) chance that the baby will have Down syndrome.  You may ‘flip’ this chance around and see that there is a 4 in 5 (or 80%) chance that the baby will not have Down syndrome.

If your chance is high enough, you may be offered the option of further diagnostic testing.  These tests (e.g. chorionic villus sampling, amniocentesis) will provide you with a definitive result.  One reason that these diagnostic tests are not offered to every woman is that there is a chance of miscarriage (about 1 in 200) associated with these procedures.

Receiving an abnormal or positive test result can be confusing and stressful so it’s important to discuss the results with your health care provider.

Posted in genetic counseling, Genetics, Women's Health | Leave a comment

‘Harmony Prenatal Test’, ‘MaterniT21 PLUS’, and the ‘Non-invasive verifi prenatal test’: What are these new prenatal tests and where can you get tested?

These three tests (‘Harmony Prenatal Test’, ‘MaterniT21 PLUS’, and ‘Non-invasive verifi prenatal test’) are examples of different brands of Non-Invasive Prenatal Testing (NIPT). NIPT uses new technology to detect fetal aneuploidy during pregnancy.  Genetic material (DNA) in human cells is packaged into 46 chromosomes.  Aneuploidy is defined as an extra or missing chromosome.  Changes in the number of chromosomes can influence human health. The most common form of aneuploidy is called Down syndrome or ‘trisomy 21’ (trisomy 21 means that there are three copies of chromosome 21 rather than two copies). NIPT currently provides accurate information for Down syndrome as well as other less common trisomies, Trisomy 18 and Trisomy 13 (and possibly other trisomies depending on the specific test). In the future, NIPT has the potential to test for other kinds of aneuploidies and conditions caused by changes in single genes.

How does NIPT look for aneuploidy?

As a baby develops in the womb, DNA from the baby circulates in the mother’s blood.  NIPT involves testing the mother’s blood (drawn from a vein in the arm, for example).  The blood is sent to a laboratory to analyze the fetal DNA in the mother’s blood to determine whether or not the baby is aneuploid.  It takes about a week for the laboratory to analyze the blood.  In rare cases, there is not enough fetal DNA in the mother’s blood to obtain conclusive results, so the test may be re-done.

How is NIPT different from other prenatal screening tests?

NIPT can be distinguished from other kinds of prenatal screening tests (e.g. maternal serum screening, fetal ultrasound) for three reasons. First, NIPT has a higher detection rate, which means that NIPT detects a larger number of affected pregnancies than other tests.  Second, NIPT results are usually available earlier in the pregnancy than other kinds of prenatal screening.  For example, detailed fetal ultrasounds are performed usually after 18 weeks of gestation while NIPT can be performed after 10 weeks of gestation. Third, NIPT does not provide information about open neural tube defects (e.g. spina bifida) while maternal serum screening and fetal ultrasound can provide information about these kinds of conditions.

What are the next steps after a positive test result?

While NIPT has a very high detection rate (~99%), it is not currently considered a diagnostic test because there is a small chance of a false-positive result. The false positive rate is approximately 0.2% which means that 1 in 500 unaffected pregnancies will test ‘positive’ or ‘consistent’ with aneuploidy. Therefore, it is recommended that further testing is pursued to confirm positive test results. Further testing may involve invasive procedures, called chorionic villus sampling (CVS) or amniocentesis. The risks associated with these invasive procedures include the risk of miscarriage (0.5-1%) and other adverse pregnancy complications. Fetal ultrasound may also provide more information for pregnancies that test positive on NIPT.

Where can I get NIPT?

In Canada, NIPT is not yet widely available. Paying privately for this testing may be an option.  In the United States, NIPT is available but insurance coverage is variable.

If you have any questions about NIPT, contact your local medical genetics clinic.
In Canada: http://cagc-accg.ca/component/option,com_sobi2/Itemid,30/
In the United States: http://www.nsgc.org/FindaGC/tabid/64/Default.aspx

For those of you outside of North America, contact your local medical genetics clinic or health care provider for assistance.

Zoe Lohn
Genetic Counsellor

Posted in genetic counseling, Genetics, Women's Health | Tagged , , , | Leave a comment

Relative Risk in the context of Health Research

I’ve been thinking a lot lately about relative risk in the context of health research. Relative risk is used to describe the chance of an event occurring with respect to the chance of the event not occurring, or occurring in a different group, etc. It often accompanies general media reports of health research e.g. the risk of getting scurvy is 10 times higher for people not taking vitamin C vs. those who do (completely fictional example!). Indeed, it almost always accompanies the written results in the original research paper, and it should. However, what is often lacking in media reports is the context of the risk, and/or an interpretation of its impact.

Using the vitamin C example above, we might be concerned that we’ll get scurvy if we don’t take vitamin C supplements. Ten times higher seems like a lot! Although I’m sure the vitamin C manufacturers would like this assessment, let’s see if it really holds water. Imagine in our fictional universe that the researchers followed 100,000 people for 10 years. After 10 years they counted that 55 people had gotten scurvy over that time. They also recorded that half of the people were taking vitamin C supplements regularly, while half were not. Of the 55 scurvy sufferers, 50 were not taking vitamin C, while 5 were. In probability terms then, non-vitamin C takers had a probability of getting scurvy equal to 50/50,000 = 0.001, or 0.1%, while the probability for vitamin C takers was 5/50,000 = 0.00001 or 0.01%. Therefore, the risk of getting scurvy was 10 fold higher (0.0001 x 10 = 0.001), for non-vitamin C takers. Which still sounds bad! However, you might not actually be super concerned about a 0.1% chance of acquiring scurvy, especially as the researchers in our fictional example did not factor in other possible causes of scurvy e.g. socioeconomic status, and other illnesses that may influence the absorption of vitamin C.

I think it’s pretty clear from this example that without information about sample size, it’s difficult to assess the size of the actual risk. Indeed, to be really thorough we would also need to know the numbers of people in each group, not just the total. Next time you’re reading a news article that reports relative risk, see if it also reports total sample size and group sizes. You may be surprised at how often it gets left out of the discussion.

Arianne Albert – WHRI Biostatistician

Posted in Biostatistics, Research, Women's Health | Tagged , , , , | 4 Comments

So you want to have a baby…

One of the most frequent responses that I get when people are trying to guess what a genetic counselor might do is something along the lines of “so maybe you’d see a genetic counselor if you want to have a baby… and maybe there’s some testing… or something?”.


The area of prenatal genetic counseling is probably one of the most well known. There are a variety of ways in which a genetic counselor can be helpful in the process of family planning. You can see a genetic counselor before conceiving or during a pregnancy.


Preconception –


This is an ideal time to see a genetic counselor. At this stage a genetic counselor will review your family history and can identify whether there are any risks for inherited conditions in your family or due to your ethnic background and whether there are any genetic tests that could be performed before or during a pregnancy. Some people may prefer not to know, however. So you can consider which phrase rings more true to you: “Ignorance is bliss” or “Forewarned is forearmed”. Are you someone who needs as much information as possible, or would you rather roll with the punches? An important point that is often overlooked in discussions of testing for genetic conditions is the fact that there is a baseline chance of 3 – 5% for the diagnosis of a physical or mental difference within the first year of life; and the majority of these cannot be identified before birth. So even if all the tests that you have come back negative, that does not mean that your baby is guaranteed to be completely “healthy”. (As a sidenote, one of my pet peeves is the use of the term “healthy” without really considering what it means to be healthy. In my opinion the expectation for a child to be completely healthy is delusional because every single person experiences some sort of health concern at some time during their life, but that’s a completely different blog post…) Taking folic acid supplements are recommended for all women of childbearing age, but particularly if you are trying to conceive.


During a pregnancy –


You could be seeing a genetic counselor during a pregnancy for a variety of reasons, including: to understand the impact that taking a particular drug had on the baby, for genetic testing for a particular condition that has been identified in your family, because unexpected structural differences have been identified on an ultrasound (e.g. spina bifida or club foot), however, the most common reason is to discuss the result of a screening test.


The most important thing to know about a screening test is that it only tells you a probability – it does not give you a definite answer.


For example, the blood test during pregnancy for Down syndrome will not tell you if your baby has Down syndrome or not. It can surprise people to find out that even if your blood test comes back positive for Down syndrome, the most likely outcome is that the baby doesn’t have Down syndrome (possible future exception: non-invasive prenatal testing blood test results). The idea behind screening for Down syndrome and other conditions, e.g. Trisomy 18, using this blood test is to give couples more information on which to base a decision about whether or not they would like the diagnostic test, e.g. an amniocentesis (this is a test that will give you a definitive yes/no answer). Another important point is that genetic counselors do not encourage couples to have the diagnostic test or to end a pregnancy with a diagnosis – the goal of genetic counseling is to help couples to understand the probability information (which can be a bit overwhelming!) and to make the decisions that are right for them. Many couples appreciate knowing about a diagnosis of Down syndrome in advance of the birth so that they can prepare – connect with a local Down syndrome organization (such as the Lower Mainland Down Syndrome Society: http://lmdss.com/) or make an adoption plan if they feel that they don’t have the resources (financial, emotional, etc.) to care for the child.


Personally, I’m very conflicted about whether or not I would have prenatal screening for Down syndrome in a pregnancy. I know that I am the type of person who likes to have as much information as possible, but at the same time I know that I can become quite anxious and that stress can negatively affect the baby’s development. This is part of the motivation for a student’s research study that I am currently co-supervising – we want to find out more about the emotional impact of prenatal screening for Down syndrome.


What do you think? Would you want to have screening? Have you had it?


Lots of excellent information about prenatal maternal serum screening can be found here: http://www.bcprenatalscreening.ca/

Posted in Uncategorized | Tagged , , , , | Leave a comment

Why might you receive genetic counseling as a child?

The main reason for referral to Medical Genetics during childhood is due to physical and/or mental differences that a parent, a teacher, or a child’s health care provider has noticed. In this case, the child is seen by a geneticist and a genetic counselor. What’s the difference between a geneticist and a genetic counselor? A geneticist is a medical doctor that has specialist training in genetics and developmental biology. Geneticists, as medical doctors, have the responsibility of making a diagnosis (where possible). Genetic counselors work with geneticists to collect information, such as family or medical histories, that might support a diagnosis, or, rule out a diagnosis.


In the world of Medical Genetics, we know a lot about many extremely rare conditions. To put that in context, we consider diseases that affect 1% of the population to be common. Expertise in the area of rare conditions is particularly valuable for those individuals who have seen specialist after specialist without receiving a diagnosis that is capable of explaining all of their symptoms. Genetics experts act a bit like detectives – hunting down pieces of evidence and attempting to fit those pieces together to see the big picture. While receiving a diagnosis inevitably brings with it an adjustment, there is great benefit to having a name to describe your experiences. Having a diagnosis can also alert you to other symptoms to watch out for or health risks that can be minimized – this can give you somewhat of a sense of control over the condition. It can also be incredibly empowering to connect to a community of people who have had the same (or very similar) experiences – it is easier to find people who have been through what you have been through when there is a name for what you’ve been through! It is also possible that there may be treatment or even a cure for the condition that is identified.


There are some things that you may find surprising about a trip to Medical Genetics:


Surprise #1


You will not necessarily have any genetic testing. In fact, genes haven’t yet been identified for many genetic conditions (making genetic testing somewhat challenging!). Many clues to a genetic diagnosis can be found simply by looking at a person. This may sound creepy, but it is actually possible to make a diagnosis on first sight. Geneticists have an in-depth understanding of the way the body is formed and there are certain patterns of changes in appearance (many of which are very subtle) that can suggest an underlying genetic change. Geneticists will often want to take measurements such as the distance from one of your hands to the other when they are stretched out as far as possible (arm span) or the distance around your head (head circumference). Sometimes these very simple, but very powerful, tools are sufficient to make a diagnosis.


Surprise #2


It is quite likely that you have no family history of this condition. People often find it difficult to understand how a child of theirs could have something when there’s never been anything like it before on either side of the family. It is completely understandable that families feel blind sided and unprepared when this occurs, but it is part of the unpredictability that is also very exciting about creating an entirely new person.


Surprise #3


We ask parents whether they might be related by blood. This isn’t to make you uncomfortable, and there is no judgment implied in this question. It is simply a piece of the puzzle that can inform the big picture. When relatives, e.g. cousins, have children there is a higher chance for the inheritance of certain types of genetic conditions.


I hope this helps give you a sense of why a child might receive genetic counseling. Please ask me any questions or share you own stories – I’d love to hear your experiences!




Posted in Uncategorized | Tagged , , , , | Leave a comment