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Gender Identity and the Medical Lab

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What happens when individuals with diverse gender identities need medical tests? Find out in my cover story “Gender Identity and the Medical Lab” published in the Winter 2019 issue of the Canadian Journal of Medical Laboratory Science. 

I reported on the challenges that gender-diverse individuals encounter at all stages of their interactions with medical labs. They face tons of obstacles throughout the whole patient journey, starting with first interactions at the reception desk to interpreting lab test results. 

Medical lab professionals need to understand these obstacles so they can make changes to ensure inclusive care. Providing “conscientious, compassionate, honest and equitable care to all patients” is expected behaviour under the Code of Ethics of the Canadian Society for Medical Laboratory Science. It’s also the law: Bill C-16, signed into Canadian law on June 19, 2017, amended the Canadian Human Rights Act and the Criminal Code to clarify and protect Canadians from discrimination based on gender identity or expression.

Many thanks to these individuals who provided helpful insights and perspectives for the story: B Adair, a healthcare aide and primary care paramedic in Alberta; Heather Black, MLT, a laboratory systems analyst at Sunnybrook Health Sciences Centre in Toronto; and, Julie Coffey, MLT, director of education at the Institute for Quality Management in Healthcare in Ontario. There was much more I would have liked to include in the story, such as the use of honorifics when referring to people by name. My favourite quote was from Julie Coffey: “When a transgender individual takes hormone therapy, their test results do not necessarily convert to match the reference interval of their gender identity. Thinking that the biomarkers will convert is binary thinking right there.” 

I hope this feature about gender identity and the medical lab sparks discussions and changes in medical labs across Canada. All people deserve compassionate, respectful care. Click here or on the image below to read the story. 

image depicting rainbow colours for story on gender identity and the medical lab

The Gene: An Intimate History Book Review

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The Gene: An Intimate History by Siddhartha Mukherjee is a fascinating read about the journey scientists have traveled to unlock the mysteries of the gene, the master code that defines all forms of life. As with his Pulitzer Prize-winning book The Emperor of All Maladies: A Biography of Cancer, Mukherjee interweaves dramatic stories about scientific discoveries and patient journeys with approachable scientific explanations.

The Gene book cover

The book begins with the story of Mendel’s discovery of heritable traits in pea plants in 1864 and traces the timeline through the hypotheses, horrors, and exciting advances over time to where we stand today in the era of genomics. Mukherjee writes in the prologue: “This book is the story of the birth, growth, and future of one of the most powerful and dangerous ideas in science: the ‘gene,’ the fundamental unit of heredity, and the basic unit of all biological information.”

He intertwines his personal quest to find answers about the likelihood he may one day suffer from the mental illnesses that have burdened some of his family members. It’s a worry many of us can relate to — whether we will fall victim to health problems that have affected our relatives, or that we may pass on to our children.

Four things I liked or appreciated learning more about in The Gene:

1. Mukherjee doesn’t pull any punches tackling important ethical questions. At the outset, he dedicates the book to Carrie Buck, who was sterilized by tubal ligation in October 1927 following a court order that deemed, “…The principle that sustains compulsory vaccination is broad enough to cover cutting the Fallopian tubes.” He covers the eugenics movement in the United States, which predated the horrors of Nazi eugenics in the 1940s which then accelerated the atrocity from sterilization to mass murdering the “genetically sick,” and “racial cleansing.”

Later, he writes about the ethics discussions that took place at the Asilomar Conference on Recombinant DNA (Asilomar II, California, 1975). He writes,”Scientists were alerting themselves to the perils of their own technology and seeking to regulate and contain their own work.” This reminded me of similar discussions at the recent International Summit on Human Gene Editing held in Washington, D.C. Leading scientists and bioethicists from around the world convened to discuss the ethics of editing the human germline with CRISPR, a recently discovered tool that can edit DNA. Today, we can both sequence the entire human genome and change it permanently. Mukherjee writes, “It hardly requires an advanced degree in molecular biology, philosophy, or history to note that the convergence of these two events is like a headlong sprint into an abyss.”

2. Rosalind Franklin’s contribution to the discovery of the structure of DNA in 1953. Many overlook Franklin’s contribution, her pivotal Photo 51 that showed the double helix structure. She missed out on sharing the Nobel Prize awarded to Francis Crick and James Watson in 1962, as she passed away at the age of 37 in 1958 from metastatic ovarian cancer. Here is a picture of Crick and Watson’s original model of the double-helix nature of DNA. I was excited to see it on a visit to the Science Museum in London, UK but disheartened to find it stuck between exhibits of the automobile and the steam engine in the Making the Modern World gallery. The first model of the code of life deserves a much better place of honour!

Crick and Watson's DNA model on display at the Science Museum of London

Crick and Watson’s DNA model on display at the Science Museum, London UK

 

3. Classifying people by race is meaningless on a genetic basis. We can scan the human genome to look for insights about where our ancestors came from, as some of my friends have done recently through home DNA tests from AncestryDNA or 23andMe. But classifying people by racial groups to make genetic predictions is a fool’s errand. The human species is too young to have accumulated substantial genetic divergence. Mukherjee writes, “The vast proportion of genetic diversity (85 to 90 percent) occurs within so-called races (i.e. within Asians or Africans) and only a minor proportion (7 percent) between racial groups. For race and genetics, then, the genome is a strictly one-way street. You can use the genome to predict where X or Y came from. But knowing where A or B came from, you can predict little about the person’s genome.” Further, since mitochondrial DNA is passed on to children only from mothers, we can all trace our lineage to a single female, “Mitochondrial Eve,” who theoretically lived in Africa about 200,000 years ago.

4. Mukherjee’s writing makes the science of genetics delightfully approachable. Before I read the book, I had a basic understanding of heritable traits from high school biology class. Beyond that, I have had the opportunity to learn more while writing stories on genetics like Family Learns Health Secrets Through Genome Sequencing, Brave New World: Are we ready for human germline gene editing? and by attending talks to learn about epigenetics and how CRISPR may one day be used to treat inherited disorders. But there was so much more to learn about genetics in The Gene. I loved the deep dive, and I am in awe about how much there is still left to discover.

Have you read The Gene: An Intimate History? I’d love to hear your comments.

You don't have to look far to see genetic mutation in your own backyard.

Every generation produces variants and mutations. Here is an example in my garden.

 

The ethics of human embryo gene editing

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Right now, scientists can edit the genes of human embryos. Using an exciting technology called CRISPR (clustered randomly interspersed short palindromic repeats), they can make precise cuts in targeted sections of DNA and paste in new code.

But should they? Editing the genes of human embryos could prevent debilitating disease, but those changes will alter the germline — they will be passed on to subsequent generations. Where do we draw the line between prevention and enhancement? And who decides?

[Read more…]

Ethics of advances in genetics: Part 2

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Rapid advances in the field of genetics are raising all sorts of ethical questions and a host of story ideas for health reporters.

This is Part 2 of my earlier post summarizing a panel discussion which took place at Health Journalism 2015 on April 24, 2015 in Santa Clara, California.

Expert panelists discussed the controversies and questions that need to be addressed given the amazing recent advances in genetics. The panel was officially called the Clinical, Ethical and Research Sides of Genetics.

hack the genome thumbnail

There was a lot of information packed into one 90-minute session! In Part 1, I summarized the highlights from the first two speakers:

  • Emily Drabant Conley, Ph.D., director of business development at 23andMe, a direct-to-consumer genetic testing company based in Mountain View, California
  • David Magnus, Ph.D., director of the Stanford Center for Biomedical Ethics (and other appointments)

In this post, I am summarizing the key points from the last two speakers:

  • Neil Schiffman, a patient advocate living with stage 4 non-small cell lung cancer, clinical trial participant
  • Henry T. Greely, director of the Center of Law and Biosciences at Stanford University (and other appointments)

Neil Schiffman: Navigating Clinical Trials 

Moderator Scott Hensley, co-host of NPR’s Shots blog said he invited a civilian on the panel to ground the discussion. Schiffman certainly did that and more. He spoke about how finding out which specific genetic mutations were driving his cancer meant that he received targeted treatments that so far have kept him alive.  

Schiffman has been living with non-small cell lung cancer for four years, no small feat as his cancer is stage 4 (the 5-year survival rate for stage 4 lung cancer is 1 per cent). He joked and said his cancer is really stage 5 because he “always has to be one better than everyone else.” Humor aside though, his circumstances are daunting and hard to fathom as he always had an annual physical, was very athletic and has always eaten a healthy diet. He admitted he still has the bias himself about most lung cancer being linked to smoking, even though he has never smoked.

Here are the key points he shared for people who are diagnosed with cancer: 

  • Get genetic testing. Schiffman admits he was lucky to live near Stanford where testing was possible. “If you live in the right zip codes, there is a good chance you will get tested and get the right treatment. The right zip codes are near the big cancer centers: MD Anderson (Texas), Memorial Sloan Kettering Cancer Center (New York), Dana-Farber Cancer Institute (Boston) and University of California, Davis.” His tongue-in-cheek advice for people living in bad-luck zip codes? Move!
  • Clinical trials are no longer considered a last resort for patients facing terminal illness. Schiffman said that with the advent of precision medicine, participating in a clinical trial is now a forward-looking strategy. He researched all the big cancer centers to find a clinical trial for the genetic mutations driving his cancer — EGFR and T790M.
  • Timing of entry in a clinical trial makes a difference. Schiffman found a trial at Stanford but was reluctant to enroll because it was an early stage trial. He said, “Someone has to be first, but I didn’t want to be first. I know sometimes you can get kicked off a trial after three or four months if it’s not working, and that wasn’t going to be me.” Through his research, he found a better trial for a treatment that was targeted for both his primary and secondary mutation. 

Henry T. Greely: The Future of the Human Species

Greely spoke about the recent ethical controversies that have burst onto the scene as scientists and regulatory bodies alike are grappling with the ethics of new capabilities for human germline gene editing. These new techniques will have implications for humans and every other living thing on our planet. He covered a lot of ground in his ten-minute talk! The science is definitely moving faster than ethical considerations in these areas:

  • Mitochondrial DNA (mtDNA) gene editing. This involves changing the DNA of a child by swapping out defective mtDNA from one mother with normal mtDNA from a second mother. The objective is to prevent rare mitochondrial diseases from being passed on from mother to child. Greely said that in spite of the lurid headlines about three-parent babies, the child actually receives 49.999 per cent of their total DNA from the father, 49.999 per cent from one mother, and .001 percent from another mother — the normal mtDNA section. The FDA ruled against the technique, but it was recently approved by the UK Parliament in February 2015. He said the FDA will soon be considering a new request for the technique from Oregon University and that he expects it will be turned down. 
  • Whole DNA targeted editing using a new tool called CRISPR-Cas9. CRISPR stands for ‘clustered regularly interspaced short palindromic repeats’ and Cas9 is a protein that works together with guide RNA to cut a specific section of DNA out so a new sequence can be inserted. (See Vox Media’s post by Julia Belluz, A guide to CRISPR, the human gene-editing tool that has scientists excited and terrified. It’s an excellent explainer about how it works and the ethical issues.) Greely said there is already a patent fight among inventors Jennifer A. Doudna (University of California, Berkeley) and collaborator Emmanuelle Charpentier (Germany/Sweden), and Feng Zhang (MIT). Greely says the invention is likely Nobel Prize -worthy. The ethical ramifications are huge! While this is a great tool to eliminate disease, how do we decide what to allow? Should this tool be used for medical conditions? For enhancement purposes? Who decides? Doudna convened a meeting of stakeholders to discuss the issues and called for a pause in the scientific community to consider the ramifications of genome modification for creating babies. (Check out stem cell scientist Paul Knoepfler’s interview with Jennifer Doudna a few months ago: it’s a good post if you want to understand more about the controversy and read Doudna’s point of view).

Greely’s bottom line? CRISPR-Cas9 raises three important questions: 

  • Is it safe? What kind of babies would be produced and with what kind of reliability?
  • Is it necessary? When would we need to use this vs. pre-implantation genetic diagnosis which has been done for decades to select which embryos to be used for IVF carry genetic diseases?
  • The bigger question: Should we modify our genes? Are we ready to play God?

He concluded by saying that he thinks non-human targeted gene editing will be more interesting in the near future, such as modifying DNA in mosquitoes to eliminate malaria.

There are scientists who would definitely agree with that point of view. To wit, a team at Harvard led by Dr. George Church is working on bringing back the wooly mammoth using CRISPR-Cas9

Ethics of advances in genetics: Part 1

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Rapid advances in the field of genetics are raising a host of questions and story ideas for health reporters to cover.

On April 24, 2015, at the Health Journalism 2015 conference in Santa Clara, California, four panelists spoke about where the field of genetics stands today and discussed the controversies and questions that need to be addressed as the field progresses. The panel was officially called the Clinical, Ethical and Research Sides of Genetics.

This panel was fascinating! My net takeaway is that the science has been moving faster than regulatory bodies can keep up in some areas, and slower than we would like for people facing life-threatening diseases.

The panel was organized and moderated by Scott Hensley, co-host of NPR’s Shots blog. The panelists were:

  • Emily Drabant Conley, Ph.D., director of business development at 23andMe, a direct-to-consumer genetic testing company based in Mountain View, California
  • David Magnus, Ph.D., director of the Stanford Center for Biomedical Ethics (and other appointments)
  • Neil Schiffman, a patient advocate living with stage 4 non-small cell lung cancer, clinical trial participant
  • Henry T. Greely, director of the Center of Law and Biosciences at Stanford University (and other appointments)

Much ground was covered in the 90-minute session — way too much for one blog post! I have summarized the things I found the most interesting from the first two speakers here in Part 1, and posted highlights from the last two speakers in Part 2.

Dr. Conley: Update on 23andMe

The FDA has relaxed their stance on consumer genetic tests in response to increasing evidence that consumers are able to understand the difference between risks and outcomes.

First, before I outline what Dr. Conley presented, here is some background information for context. In November 2013, the FDA ordered 23andMe to stop selling direct-to-consumer genetic tests in the U.S. At the time, the FDA cited concerns for the potential health consequences that could result from false positive or false negative assessments for high-risk indications, such as BRCA-related ovarian and breast cancers, and the potential for patients to self-manage dosages or abandon drug therapies altogether without physician consultation, which could be dangerous for some drugs.

Dr. Conley spoke about the recent approval to market the test in the U.S. and what led to the change in stance by the FDA. In February 2015, the FDA issued the first approval ever for 23andMe to market a test for Bloom Syndrome, stating that in many circumstances, it’s not necessary for consumers to go through a licensed practitioner to access DNA information. The test has the potential to provide people with information about autosomal recessive disorders, where possible mutations in parents’ genes can possibly be passed on to their children. Dr. Conley discussed the independent study results that formed the basis of the FDA submission and said, “We needed to first demonstrate that the test is accurate, and secondly, that users could comprehend this information. Not just savvy, sophisticated users, but that average users could interpret the results and make sense of them.” The findings she presented were quite compelling.

I found it interesting how regulatory bodies in the U.S. and Canada have taken different approaches to the ethical considerations of consumers understanding the difference between risks and outcomes. When a pared-down version of the test was launched in Canada in October 2014, Health Canada passed the buck to the provinces to determine if medical and privacy information would be handled adequately. But the horse had already left the stable: 20,000 Canadians had already ordered the broader-range test kits from 23andMe’s website and imported them prior to the Canadian launch.

Consumer genetic tests are a stepping stone in a much bigger business plan for 23andMe. 

In January 2015, 23andMe announced a new therapeutics division and signed billion-dollar deals with Genentech and several pharmaceutical companies. The division’s focus is to develop targeted drugs using human genetic data, hopefully speeding up the development pipeline dramatically compared to traditional methods that start with animal research. Hear her speak in this interview for Bloomberg Business.

What does that mean? Consumers consent to allow 23andMe to use their genetic information, stripped of their identity to ensure privacy. You might think at first blush that most consumers would balk at the company selling their data to for-profit drug companies, but Dr. Conley said that the opt-in rate is 80 per cent.

Dr. Magnus: Ethical challenges of next-generation sequencing

Magnus drew a chuckle from the audience when he said his presentation would cover a different topic and he “wouldn’t compete with the infomercial” we had just seen from Drabant Conley. His work at Stanford focuses on examining ethical issues in reproductive technologies, organ transplantation –and end of life issues in adults and children. His presentation focused on the broad ethical challenges that are arising as next generation sequencing moves into the clinic:

  • Informed Consent: As genetic testing has moved from information about a single trait to a larger panel of full sequencing, what does that mean for informed consent? For example, if non-invasive prenatal testing in a single process becomes the norm, is it necessary to seek informed consent across a whole range of disease possibilities? How should the uncertainty of results be communicated to people both before and after the results are available?
  • Risks: What are the risks of false positives? There has already been a case of false paternity from 23andMe test results.
  • Privacy Issues: Data management is a huge burden because genomic data is inherently identifiable. There have been cases where de-identified information has been combined with other data and individuals were identified. The HIPPA Privacy Rule actually requires a low risk of identifiability, not zero!
  • What Information Should Be Returned? Should only actionable findings or all findings be returned, even those of unknown significance? Who decides and controls the flow of information — patients, doctors, pathologists, hospital review boards?

The bottom line for me is this: Are we ready to know what we don’t know? What changes once we do?

The ethics of using stem cells for enhancement

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On October 9, 2014, the Centre for the Commercialization of Regenerative Medicine (CCRM) held a Café Scientifique called Bigger, Better, Faster, Stronger — Are Stem Cells the Answer? at the Hard Rock Café in Toronto, sponsored by the Canadian Institutes of Health Research. Three experts discussed the ethics and likelihood of using stem cells to enhance human performance.

Stem cell therapies are an exciting reality, helping many people recover from life-threatening diseases and debilitating chronic conditions. Worldwide, more than 350,000 patients have been treated with living cell products. Currently, scientists are looking for ways to use stem cells to treat a wide range of disease conditions, such as Parkinson’s disease, multiple sclerosis, rheumatoid arthritis, heart disease, liver disease and diabetes.

While the venue was perhaps an odd setting for a discussion about stem cell applications, moderator Dr. Peter Zandstra noted that it was fitting to be meeting less than a kilometre away from where two Canadians, Dr. James Till and Dr. Ernest McCulloch first discovered transplantable stem cells. Dr. Zandstra is Chief Scientific Officer for CCRM, Professor at the University of Toronto’s Institute of Biomaterials and Biomedical Engineering and Canada Research Chair in Stem Cell Bioengineering.

The first speaker was Dr. Paul Zehr, a neuroscientist, professor and director of the biomedical research centre at the University of Victoria, and author of the book Becoming Batman: The Possibility of a Superhero. He discussed the concept of a continuum, how at one end of the scale we have stem cell treatments that can cure disease and help restore performance to ‘normal,’ and at the other end of the spectrum in the future, we could potentially use stem cell treatments to boost performance from normal to extremely high levels seen in Olympic athletes and sports heroes. He highlighted the key questions we should be asking as science moves along this continuum:

  • Which situations should qualify for biomedical enhancements?
  • Who decides the rules?
  • What is the ‘acceptable’ range of human performance?
  • Who gets access?
  • Should we allow biomedical shortcuts or continue to require athletes to train for many years to reach their optimal potential?

Richard Pound, one of Canada’s most recognized figures in international sport, founding president of the World Anti-Doping Agency and former Secretary and President of the International Olympic Committee spoke next. He discussed how organized sport is a form of social conduct governed by rules agreed to by participants and how sport is intended to be humanistic, where the outcome is determined on skill attained through practice and training. Those who do not agree with the rules are not obligated to participate in sports. One of the key rules is to not use banned substances and methods codified in the World Anti-Doping Code. Adherence to the Code prevents unfair advantage in competition and safeguards athletes from health risks.

For example, take erythropoietin, or EPO as it’s commonly known. Originally developed as a therapeutic treatment to stimulate red blood cell production in patients with chronic kidney disease or undergoing cancer treatments, elite athletes have used it as a way to increase red blood cell counts above average, to boost performance by increasing the amount of oxygen reaching muscle tissue. EPO carries significant health risks because it thickens the blood, and its use has led to some deaths by cardiac arrest.

Pound said that the WADA has been aware of gene therapy and genetic manipulation since shortly after the organization was formed in 1999 and that there is already a rule in place about genetic manipulation. He says that so far though, emerging science in stem cell technology is not currently a major concern in sports. Evidence to date shows that stem cell treatments may assist in recovery from injury, but not always full recovery. Pound said that the hype is outpacing the action, so there is no need yet to amend the list of banned substances and methods to prohibit medical applications of stem cells.

If stem cell treatments do become a method for gaining unfair advantage in organized sport in the future, one the key issues will be finding a reliable screening test. Athletes cannot be disqualified on suspicion, but how will it be possible to target the exact tissue to find out if a stem cell therapy was used? WADA’s Gene Doping Panel will continue to tap into the literature and follow the buzz to see if a reliable test for gene doping can be found.

The third speaker, Dr. Bartha Knoppers, discussed the human right to attain the highest state of health, the ethical questions raised by the context of “attain” and that we must take into account the importance of the United Nations Convention on the Rights of the Child. She is a lawyer, ethics expert and professor at McGill University, holds the Canada Research Chair in Law and Medicine, and has also served on WADA’s International Ethics Committee.

She cautioned that the danger of well-intended abuse could arise if parental manipulation takes on a whole new meaning and stem cell treatments are used for performance enhancement in sports. She advocated that we will need an oversight framework to safeguard children as the science of stem cells progresses and interest in performance enhancement applications grows. The key questions we need to answer are: Are the interventions in the best interests of the children? Are the interventions medically required or for performance enhancement? Who decides what the best interests of children should be?

While this Café Scientifique did not provide answers, it was an interesting discussion of the important ethical considerations for the future applications of stem cells. In the concluding Q&A session, a bright woman asked,”Who gets access to these enhancements in a society that’s becoming increasingly stratified?” As Dr. Alfred Lanning says to Will Smith’s Detective Spooner character in the fictional movie, I Robot, “That, Detective, is the right question.”