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. 🙂
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.
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’s personal experience than with his / her age. I do not want to assume—based solely on his age—that 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’s 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’s age.
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®. [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’ 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 – VHL Alliance. [online] Available at: http://www.vhl.org/wordpress/patients-caregivers/getting-support/ [Accessed 4 Feb. 2015].
WHO.int 2015. World Health Organization. “Genes and human disease: Monogenic Diseases.” [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.