It is finished.

I’ll send a real update by the end of the September. For now– a photo shoot with some books. ūüôā

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The Netherlands – Presenting preliminary research findings!

Back in March, I pursued an opportunity to present findings from my research at a symposium in the Netherlands that coming August. As with most of my adventures, I planned to add some pleasure to this business trip.

Pleasure:

I have a fair amount of stamps from the Netherlands in my passport (thank you Delta / KLM transfers) but this was the first time I left the airport. I spent most of my time in Amsterdam and Utrecht, but I also skipped over to Den Haag for a solid 40 hours. See captions below for a quick overview:

Business:

I’ve struggled with putting pen to paper on this topic for quite some time because, in short, the story is complicated. For the sake of a blog post, I figured the best way to succinctly share is to publish a short response I submitted for a secondary medical school application.

Discuss a time when you stepped out of your comfort zone. What were the challenges? What did you learn?

In August, I had my first opportunity to travel to the Netherlands. International travel always presents challenges, but this trip in particular pushed me out of my comfort zone: I was attending the International Symposium for Young Adults with von Hippel-Lindau (VHL) as both a patient and a professional, presenting my dissertation research on reproductive counseling for young VHL-positive people.

During introductions, we were encouraged to share our current ‚ÄúVHL challenge‚ÄĚ; I met people like T who had traveled 30+ hours by train, because his current post-operative instructions barred him from flying. I was moved by my peers‚Äô courageous stories, simultaneously feeling blessed and self-conscious of NOT having the token scar along the nape of my neck indicative of brain surgery. I was shaken from these inner reflections when K shared her concerns that VHL would be incompatible with having children. Trying to offer help, the symposium coordinator singled me out as a ‚Äúsubject matter expert‚ÄĚ. I flushed.

I enjoy public speaking, but presenting as both a patient and researcher quickened my heart rate. I was confident in my research, but the topic of reproduction is nevertheless sensitive. My presentation increased the awkward gap between the participants and me until I finished an interactive presentation with a silenced audience. Later that evening, participants began to approach me individually, sometimes with a reflective statement, technical questions, philosophical musings, or a quiz about my personal views. More commonly, however, they greeted me with positive encouragement: we are really appreciative to hear this from a VHL-positive person like you who not only knows her stuff but truly GETS it. As a physician, balancing authoritative knowledge with empathetic care will be a persistent challenge, but I know the more I practice navigating this awkward tension, the better I will be able to serve my patients.

A slide from the presentation before mine. This supports one of the findings of my research: adoption is a

A slide from the presentation before mine. This supports one of the findings of my research: adoption is a “forgotten” option.

What is the value of a human embryo given a genetic diagnosis?

Process: <ňąpr√§ňĆses,ňąprŇćňĆses>¬†to mull over an idea by oneself and with many different good listeners until¬†it becomes possible to articulate a coherent thought

Since I recognize¬†most folks¬†aren’t going to want to read the book that is my dissertation, I thought you might be¬†interested to see an example of how I developed an idea within my dissertation using existing literature and patient interviews.

Processing Notes

(The following passage is based off an exchange with my parents from 15 July 2015.)

I’m chuggin along on my dissertation and thinking back to some of our conversations on the topic of reproductive technologies for couples affected with a genetic condition.

One of the issues I’m trying to sort out is the seemingly paradoxical views that patients have regarding the value of a person (embryo / fetus / infant / adolescent / adult) diagnosed with VHL.
On one hand, patients seem to reject the ‘expressivist¬†argument’ that using PGD to select against embryos with VHL expresses¬†a value-judgement that people with VHL are worth less than people without VHL.
e.g. participant response: “I don’t have a problem with my own self worth… I’m thinking more about, I want a healthy baby” (p57 in dissertation).

On the other hand, patients are uncomfortable with ‘taking their own medicine’ so to speak.
e.g. participant response: “My dad didn’t know [he had VHL], but I would not have wanted him to… um… to have… eh chosen to abort me” (p58 in dissertation).

It seems like they would agree that their life is worth living.

The most recent article I was reading was published in the Medical Law Review with one of the authors (Rosamund Scott) from King’s College London and another (Bobbie Farsides) having just given the keynote lecture at the International Medical Ethics Conference that I attended last month in Newcastle.¬† The ‘utility’ of the embryo– both in terms of gestation and research– is most promising when the embryo is fresh and not frozen, so there is motivation to approach a couple with opportunities for donating ‘spare’ embryos for research. However, as highlighted in the article:
“On the goals of research, the authors note that ‚Äė[f]or isolation of an ES cell line from the inner cell mass, it is essential that these suboptimal surplus embryos develop to blastocyst stage‚Äô and further that a then-recent study suggested that¬†frozen¬†embryos were less likely to do this.87¬†Most significantly, of the ‚Äėsuboptimal surplus‚Äô embryos donated to research in this study, 34% did indeed develop into blastocysts. From the perspective of the donors, this is a highly significant concern and it brings us to a crucial point that may be little known outside the clinic and the research laboratory, which is that a¬†good research embryo might also be a good treatment embryo. In other words, 34% of the ‚Äėsuboptimal‚Äô embryos in fact had good potential to result in a live birth.”

Alas: a conflict of interest. Hospitals that house both IVF clinics and human embryonic stem cell research must somehow non-coercively convince couples to donate embryos.

The authors recognize this dilemma and suggest a solution: thou shalt not ask healthy couples to donate fresh embryos, but it is permissible to ask couples undergoing IVF / PGD for their fresh embryos that have been given a positive diagnosis.
“A couple who has chosen PGD for a serious inheritable condition is unlikely to wish to have an ‚Äėaffected‚Äô embryo transferred or frozen and is more likely to consent to such embryos passing out of treatment use as ‚Äėspare‚Äô.”

Seems like this just legitimizes a label of ‘life unworthy of life’ or at the very least of ‘significantly lower value’ than a diagnosis-free embryo. And it does so based on the parents’ decision who (based on my small study) vocalize that they do not think PGD makes any value judgement.

The HFEA (UK’s Human Fertilization & Embryology Authority) has an official list that keeps growing of ‘approved’ genetic conditions for which PGD is permissible and can be funded by the National Health Service. VHL is one of them. While I recognize that people diagnosed with VHL can have an awful case¬†of the disease, I still can’t wrap my head around¬†a decision to blot out life based on genetic makeup. Especially when the expressivity of VHL is highly variable (ie: just as some people may have a terrible time with VHL, others may have negligible problems.)

¬†Here’s the link if you are interested in reading the whole article.

Love you much,
Andrea
Featured image from: http://www.ivfcenterhawaii.com/images/PGD_IVF.jpg

Let the dissertation work begin!

Hi folks,

May is the exam season at KCL, but¬†thank goodness¬†that’s an experience that I can say I’ve tried once and don’t have to repeat. ¬†Instead of locking myself away in the library to study for exams, I’ve locked myself away in the library to write papers. ūüôā

D-day is May 14,¬†but in the mean time, I’m also gearing up for full time dissertation work. Today¬†I conducted my very first interview and I’m happy to report: so far, so good! The wifi¬†even lasted for an entire¬†hour!

For those that are interested, I’ve included a segment from (the revised edition of) my proposal that I submitted in February at the bottom of this post. Be forewarned, this has a lot of jargon in it!¬†As I continue to work on my dissertation (due in September) I foresee myself writing some blog posts and will do my best¬†to break it down like I did¬†with my first¬†mtDNA update.

Cheers,

Andrea

Reproductive Counseling (RC) for Adolescents Diagnosed with von Hippel-Lindau

Current methods of genetic testing are most prescriptive for highly penetrant, monogenic disorders such as Huntington’s Disease and Neurofibromatosis (Cecil et al. 2012, p 184-187).  Although each monogenic disease is rare, it is estimated that the global prevalence for all monogenic diseases is 1/100 births (WHO.int 2015).  Since symptoms of some of these monogenic diseases can be quite severe or even lethal, receiving such a diagnosis often influences a person’s reproductive decision-making process.

I would like to focus my research on von Hippel-Lindau (VHL) disease, a lesser publicized monogenic disease caused by mutation in the VHL tumor suppressing gene located on chromosome 3p26-25.  VHL follows a pattern of autosomal dominant inheritance, but approximately 20% of cases occur via a de novo mutation (Frantzen et al. 2012).  It often manifests itself first via tumors on the retina, but may also affect the kidneys, adrenal glands, and central nervous system (Frantzen et al. 2012). The most recent calculation of a VHL patient’s life expectancy was approximately 50 years, but early diagnosis, vigilant surveillance, and proactive management of tumors help reduce the morbidity and mortality of affected individuals (Orpha.net 2015).

Although patients with monogenic disorders such as VHL have more reproduction options than in any previous decade, there are many important ethical considerations that must be considered in navigating these family planning decisions.  These ethical considerations are perhaps most exaggerated for adolescents (age 12-17 years) diagnosed with a de novo mutation. Understanding that none of the patient’s family have the disease and that discussions regarding family planning are often regarded as private and sensitive:

  • How¬†do VHL patients perceive their involvement in RC¬†that they receive as adolescents?
    • Why do adolescents have the counselors that they have?
    • Who is / should be initiating RC sessions with adolescent patients?
    • When considering RC¬†for adolescents, how is the¬†de novo¬†case unique?
  • How are bioethical considerations incorporated into RC¬†sessions with adolescents?
    • What understanding do VHL patients have of the ethical considerations relevant to reproductive options?
    • Do patients perceive themselves to be cognitively and emotionally mature enough as adolescents to understand the technical details / risks / ethical considerations being discussed in RC sessions?
  • To what extent do patients perceive the RC¬†received as adolescents as beneficial for making reproductive decisions?
    • How do patients’ social identities (ie: cultural, religious affiliations) impact their interpretation of the RC¬†they receive?
    • Based on the research, should patients receive RC¬†as adolescents? Why or why not?

 

**Note: these are my¬†revised questions which reflect a slight shift in focus from when I originally submitted my proposal. You’ll notice that I only have one de novo specific question. After 2 months of recruiting de novo participants, I still did not have enough volunteers. Consequently, this past week, I modified the requirements so other people that inherited VHL could participate. I’m still ironing out some of the changes to my research plan, but am quite happy with my current questions. They emphasize the adolescence (more than de novo / inherited) qualifier and thus¬†target the area that I am most interested in investigating.

 

Literature exists on prenatal genetic counselling for pregnant adolescents (Griswald et al. 2011; Peters-Brown and Fry-Mehltretter 1996); the influence of a patient’s cultural (Weil 2001) or religious (Evans 2010) identity on his decision-making process; the parental response to a child’s diagnosis with a rare disease (Picci et al. 2013); and attitudes that VHL patients have toward modern reproductive technologies (Lammens et al. 2009). However, to my knowledge nothing exists at the cross-roads of these topics. Recognizing this knowledge gap in published literature, I would like to study the various forms of counselling that adolescents receive when they have been diagnosed with VHL because I want to find out how these adolescents navigate reproductive decisions in order to understand how to better support their decision making process.

Although my research objective focuses on adolescents, I have specifically chosen to speak with adult patients because adults will have had more time to process what it means to live with VHL, what reproduction entails, and how a VHL diagnosis may influence their reproductive decisions.  This extended processing time will likely make them more willing and potentially less sensitized to discussing these topics. Recognizing that this does not eliminate the risk of inducing psychological stress or anxiety, I will provide participants with supportive resources through the VHL Alliance (VHL Alliance 2015) and clearly state that participants have rights to withdraw from the study via the Consent Form.

I have not specified an age range for these adult participants because reproductive decisions are deeply personal, associated more closely with an individual‚Äôs personal experience than with his / her age.¬† I do not want to assume‚ÄĒbased solely on his age‚ÄĒthat a qualifying adult is (not) prepared to reflect on his experience as an adolescent. ¬†Participation is voluntary and will hopefully be guided by a patient‚Äôs personal comfort level in discussing these topics openly.¬† Furthermore, a wider variety in age may provide me with a better ability to understand how reproductive decisions and / or counselling services shift with a patient‚Äôs age.

References

Cecil, R L, Goldman, L and Schafer, A I, 2012,¬†Goldman’s Cecil Medicine. Philadelphia: Elsevier/Saunders. Print. pp. 184-187.

Evans, J H, 2010, Contested reproduction: Genetic technologies, religion, and public debate, University of Chicago Press.

Frantzen, C, Links, T and Giles, R 2012, ‘Von Hippel-Lindau Disease’.¬†GeneReviews¬ģ. ¬†[Internet]. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1463¬† [Accessed 4 Feb. 2015].

Griswold, C M, Ashley, S S, Dixon, S D and Scott, J L, 2011, “Genetic counselors‚Äô experiences with adolescent patients in prenatal genetic counseling”, Journal of genetic counseling, vol. 20, no. 2, pp. 178-191.

Lammens, C, Bleiker, E, Aaronson, N, Vriends, A, Ausems, M, Jansweijer, M, Wagner, A, Sijmons, R, van den Ouweland, A and van der Luijt, R, 2009, “Attitude towards pre-implantation genetic diagnosis for hereditary cancer”, Familial cancer, vol. 8, no. 4, pp. 457-464.

Orpha.net 2015. Orphanet: Von Hippel Lindau disease. [Internet]. Available at: http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=892.0 [Accessed 29 Jan. 2015].

Peters-Brown, T and Fry-Mehltretter, L, 1996, “Genetic counseling for pregnant adolescents”, Journal of genetic counseling, vol. 5, no. 4, pp. 155-168.

Picci, R L, Oliva, F, Trivelli, F, Carezana, C, Zuffranieri, M, Ostacoli, L, Furlan, P M & Lala, R, 2013, “Emotional Burden and Coping Strategies of Parents of Children with Rare Diseases”, Journal of Child and Family Studies, , pp. 1-9.

VHL Alliance, (2015). Getting Support РVHL Alliance. [online] Available at: http://www.vhl.org/wordpress/patients-caregivers/getting-support/ [Accessed 4 Feb. 2015].

WHO.int 2015.¬†World Health Organization. ‚ÄúGenes and human disease: Monogenic Diseases.‚ÄĚ [online] Available at: http://www.who.int/genomics/public/geneticdiseases/en/index2.html [Accessed 29 Jan. 2015].

Featured image: Internet photo inspired by the signs that students leave on the library computers when they take a break from studying. ¬†Another favorite, akin to my Grandma’s To be Continued: Keep Calm, I’ll Return.