GENETIC COUNSELORS KNOWLEDGE AND PERSPECTIVES OF CORD BLOOD BANKING AND STEM CELL THERAPIES

Transcription

1 GENETIC COUNSELORS KNOWLEDGE AND PERSPECTIVES OF CORD BLOOD BANKING AND STEM CELL THERAPIES A Research Project Presented to the Faculty of California State University, Stanislaus In Partial Fulfillment of the Requirements for the Degree of Master of Science in Genetic Counseling By Samantha Brummitt May 2014

2 CERTIFICATION OF APPROVAL GENETIC COUNSELORS KNOWLEDGE AND PERSPECTIVES OF CORD BLOOD BANKING AND STEM CELL THERAPIES By Samantha Brummitt Signed Certification of Approval Page is on file with the University Library Signed Certification of Approval Page is on file with the University Library Janey Youngblom, PhD Professor of Genetics Department of Biological Sciences California State University, Stanislaus Date Heather Harris MS, CGC Cord Blood Registry Date Brianne Kirkpatrick MS, CGC Geisinger Health System Date Mayya Sakr MS, CGC Integrated Genetics Date

3 2014 Samantha Brummitt ALL RIGHTS RESERVED

4 DEDICATION I would like to dedicate this research project to my parents, Joe and Cheryl Brummitt, and my sisters, Marissa and Mary Grace Brummitt. I would like to thank my parents for encouraging me to find a career path that I was passionate about and supporting me in that journey. You taught me the value of education and discipline, which brought me to where I am now. I would like to thank my sisters for motivating me to reach further and work harder. You all are my inspirations. iv

5 ACKNOWLEDGEMENTS I would like to acknowledge my amazing committee members Janey Youngblom, Brianne Kirkpatrick, Heather Harris, and Mayya Sakr, who supported me throughout this project by providing invaluable insights and knowledge regarding this topic and the research process. I would especially like to thank my committee members for encouraging me to pursue this project and believing in the need for such a study. v

6 TABLE OF CONTENTS PAGE Dedication... Acknowledgements... List of Tables... iv v vii List of Figures... viii Abstract... ix Introduction... 1 Methods... 8 Results Demographics Knowledge Clinical Application Perception of Importance Opinions Discussion Recommendations Limitations References Appendices A. Study Survey B. Notice to Winners of Drawing vi

7 LIST OF TABLES TABLE PAGE 1. Demographics of respondents Means and standard deviations of specialty groups knowledge scores Other educational avenues specified by participants Reasons participants would choose not to bank future children s cord blood Reasons participants would or would not recommend cord blood banking to patients vii

8 LIST OF FIGURES FIGURE PAGE 1. Distribution of participants current specialties Participants perceived knowledge of four aspects of cord blood banking Comparison of respondents perceived knowledge of four focuses Avenues through which genetic counselors were educated on cord blood banking How often the topics of cord blood banking and stem cell therapies come up in genetic counselors practice How the topic of cord blood banking came up Agreement with the statement Genetic counselors should have a good knowledge of cord blood banking and therapies Comparison of respondents ranking of the importance of knowledge regarding cord blood banking and therapies for genetic counselors Participant responses: Would you consider cord blood banking for future children? viii

9 ABSTRACT Umbilical cord blood presents a unique opportunity to gather and preserve hematopoietic stem cells for possible treatment of many diseases, including genetic conditions. Ongoing clinical trials are revealing new uses for these stem cells everyday. Genetic counselors play a significant role in prenatal, pediatric and adult care for many patients and families who may benefit from learning about cord blood banking and therapies. This study reports on genetic counselors knowledge and opinions of cord blood banking and stem cell therapies, as well as how often and why they are talking to their patients about it. A survey was administered to members of the NSGC via an e-blast survey which assessed respondents factual knowledge on cord blood banking as well as their feelings about their own knowledge and need for education on the topic. Results revealed that as a group, genetic counselors have limited knowledge of cord blood banking and stem cell therapies. Most respondents were aware of their lack of knowledge, rating their own understanding of different aspects of cord blood banking as low in spite of their agreement that cord blood banking and stem cell therapies are topics with which genetic counselors should be familiar. The majority of study participants (67%) also indicated that they would find an educational booklet useful to their practice. These results highlight an area of need in genetic counselors education, and the authors provide ideas for focusing future education efforts of genetic counselors on the value of stem cell therapies and cord blood banking. ix

10 INTRODUCTION In 1988, the very first cord blood stem cell transplant was performed for a five-year-old child diagnosed with Fanconi Anemia (Ballen, Gluckman & Broxmeyer, 2014). Ever since that successful transplant, research has been ongoing to find new uses and possible cures for both hereditary and non-hereditary conditions using cord blood stem cells. Although bone marrow transplants have previously been successful in treating similar conditions, cord blood provides many advantages in comparison (Armson et al., 2005). Due to these advantages and successes, cord blood banks have been established in the US and all over the world to preserve what was previously considered medical waste (Ballen et al., 2014). Within the more than 20 years since the value of cord blood stem cells (CBSCs) was recognized, great steps have been made toward capitalizing on the potential for uses and treatments with CBSCs. Aside from already being a standard treatment for children with hematologic diseases such as leukemia and sickle cell disease, CBSC transplants are involved in many promising clinical trials, ranging from treatment of cerebral palsy to Alzheimer s (Cord Blood Registry, 2013). Two disadvantages currently limiting the availability of cord blood are the number of banked units and the diversity of those that exist (Barker, Byam & Kernan, 2012). Genetic counselors work in many clinical settings in which they encounter a reason to speak to their patients about cord blood. Prenatal genetic counselors in particular have the opportunity to educate pregnant 1

11 2 women about their options regarding cord blood banking before the resource is discarded. The value in cord blood lies in the hematopoietic stem cells (HSCs) that can be isolated from the collected blood. Hematopoietic stem cells are the cells that differentiate into all types of blood and immune cells (National Institute of Health, 2011). Aside from cord blood, HSCs are also found in bone marrow and may be harvested from peripheral blood (Nietfeld et al., 2008). Historically, HSCs were valued for their ability to reconstitute a destroyed immune system due to chemotherapy or irradiation. Today they are used for this same reason, but often times, the immune system is purposely wiped out for a transplant to occur. This protocol is used most routinely in treatment of hematologic disorders such as leukemias, lymphomas, myelodysplastic syndromes, plasma cell myeloma, neuroblastoma and other rare childhood cancers (Passweg et al., 2012). Although less common, HSCs have also proven successful in the treatment of hereditary metabolic conditions, sickle cell disease, and thalassemias (NIH, 2011). Depending on the condition being treated, HSC transplantation may involve using the treated individual s own bone marrow or peripheral blood cells, known as an autologous transplant, or they may receive HSCs from a related or unrelated donor for an allogenic transplant (Nietfeld et al., 2008). In order to be eligible, a donor must be a high degree human leukocyte antigen (HLA) match with the recipient in the case of bone marrow or peripheral blood stem cells (Rao et al., 2012). Human leukocyte antigens are proteins on the surface of cells, which signal to the immune system that

12 3 they are not pathogenic or foreign. Without this match, the donor cells may attack the recipient s body, triggering graft verses host disease (GVHD) (Willert et al., 2008). Although cord blood does not solve the problem of GVHD, it has been shown to decrease the risk and severity while also presenting many other advantages. Cord blood provides an alternate solution and many advantages over bone marrow transplant. Unlike bone marrow, which requires an 8/10 HLA match between donor and recipient, as little as a 3 out of 6 HLA match has proven successful when transplanting CBSCs (Escolar et al., 2005). Because HLA types are inherited, a sibling has a 25% chance of being a perfect HLA match. Having a perfect match or perfect sibling match has been shown to markedly decrease the risk of GVHD, a prominent issue with bone marrow transplant (Passweg et al., 2012). Using cord blood stem cells as opposed to bone marrow or peripheral blood has also proven to decrease that risk (Gluckman et al., 2013). Even more relevant to genetic counselors, Weisdorf et al. demonstrated that sibling donation was far more successful when used for treatment of hereditary disorders than donor cells were. By banking a child s cord blood, families are making a potential match available to siblings and relatives if a stem cell transplant were to be needed in the future. Families who are already aware of a condition that may be treated with CBSCs may be eligible for free storage through directed donation. Many private cord blood banks make this option available to clients who wish to bank a child s cord blood for a diagnosed condition in a relative.

13 4 Because cord blood is collected at the time of birth and HLA type is recorded once sent to a public cord blood bank, these specimens can be recognized as matches and retrieved for treatment in a quick and simple manner (Armson et al., 2005). In contrast, the process of finding a bone marrow match, let alone a willing donor can be extremely tedious and often times too prolonged for a critical patient (Gluckman, 2009). Besides the convenience factors, retrieving umbilical cord blood presents no harm to the donor, as the newborn baby is disconnected form the umbilical cord before the sample is taken (Armson et al., 2005). Private and public cord blood banks have been established all over the United States and the world in order to make Umbilical cord blood (UCB) stem cells available to those who need a transplant and to allow families to personally store their baby s cord blood for future autologous or family use. With minimal harm, and vast potential benefits, cord blood banking is becoming an important personal and public health matter (Wagner et al., 2012). Due to the aforementioned benefits, many research and clinical trials involving cord blood therapy are ongoing. These trials range from regenerative therapies for traumatic brain injury to treatment for cerebral palsy and congenital heart defects (Clinicaltrials.gov, 2013). These studies are ongoing and have yet to report their findings, however, initial smaller studies and studies using other sources of stem cells have returned promising results. A study done in which seven subjects with a diagnosis of lupus, were treated with a hematopoietic stem cell transplants, and all seven were living one to three years later without revealing symptoms of the disease or requiring treatment (Traynor et al., 2000). Another study that analyzed the

14 5 effect of cord blood derived stem cell treatment for mouse model Alzheimer s disease not only showed improvement in spatial learning and memory decline, but also a decrease in protein deposits believed to cause Alzheimer s (Lee et al., 2012). With so many clinical trials in place, and for so many varying conditions, it is impossible to say who all may benefit from banking or donating their baby s cord blood in the future. With research thus far, it is fair to say that babies being born now may benefit from cord blood therapy in a few years for something that we cannot treat today (Parents Guide to Cord Blood Banking, 2013). It is important that when these treatments become available, cord blood banks can keep up with demand and supply those of complex ethnic backgrounds with an HLA matched unit. Current research is not only aimed at new treatments for diseases such as autism and Alzheimer s; it is also aimed at making existing treatments better. A limitation to cord blood units and transplantation is the small volume of blood and therefore stem cells available in one unit (Ballen et al., 2013). Due to this mismatch of cord blood sample volume and the need for larger volumes of blood for the treatment of adult patients, studies have shown that transplantation for adults using CBSCs is much less successful than in a pediatric population (Ballen, et al., 2014). Three solutions have been proposed to combat this issue, the first being a double cord blood transplant. A double cord blood transplant involves one individual receiving two separate cord blood units from two separate donors, in order to increase the cell dosage that they are receiving and to increase the likelihood of successful engraftment of at least one line of CBSCs. Although proven safe, studies have yet to show the

15 6 impact of double transplant verses single transplant in terms of success for adult patients (Ballen et al., 2013). The second proposed solution involves stem cell expansion, in which the extant stem cells are triggered to divide. Recently, studies have demonstrated the safety of transplantations with expanded units after treating adults with various malignancies (Ballen et al., 2013). These studies also show promising data that expanded units may also decrease the time to engraftment, a significant issue with cord blood transplantation (Rao et al., 2012). Enhancing the ability of stem cells to find their way to a patient s bone marrow once transplanted is also being studied in order to improve patient outcomes. If successful, this solution could be a much more efficient and cost-effective approach than a double cord blood transplant or stem cell expansion method. Once techniques are mastered and well studied, cord blood could be a more utilizable source of stem cells for therapeutic use in adults. Cord blood stem cells have the potential to help many individuals and obtaining them harms virtually no one, yet only a fraction of the population have had their cord blood banked (Rao et al., 2012). Educating the general population about cord blood banking opportunities may improve the availability of cord blood units, as well as the diversity of the samples so that more individuals in need of treatment may find the right match. Genetic counselors play a significant role in prenatal, pediatric and adult care for many patients who may benefit from learning about cord blood banking and therapies, as well as details such as cost, insurance coverage and free directed donation. With new information and technology constantly evolving within

16 7 the genetics community, it is the responsibility of genetic counselors to stay abreast of topics that are relevant to their practice. As a possible treatment for many genetic conditions, cord blood banking may be a critical topic of discussion in any genetic counseling session (Ruggeri et al., 2011; Excolar et al., 2005). Aside from the relevance to families with a genetic condition, any individual has the option to donate or privately bank their baby s cord blood, and should be made equally aware of these options. It is necessary for parents to know of the option of cord blood banking before giving birth, which implies that prenatal caregivers and genetic counselors should be the ones discussing this, especially for families that may want sibling cord blood for treatment of a genetic condition (Armson et al., 2005). For example, a pregnant woman who already has a child with sickle cell anemia would be an ideal candidate to bank her new baby s cord blood for possible treatment of the older child. On the other hand, if a couple who are both carriers for a treatable condition find out through amniocentesis that their child will be unaffected, they may wish to bank their first baby s cord blood for donation to any future siblings that may be affected. Currently, no data exists on the knowledge of genetic counselors on the subject of cord blood banking or the frequency in which cord blood banking is discussed with their patients. In order to direct educational efforts, it is important to gauge the current knowledge and application of information regarding cord blood banking and therapies and the opinions of genetic counselors on the relevancy of this topic to their professional practice. This study aimed to address this deficit of data so that efforts to educate those within the genetic counseling profession may be properly

17 8 focused. It is the hope of the researchers that this effort will lead to genetic counselors being better prepared to discuss and guide patients and families in the decisionmaking process on cord blood banking more effectively.

18 METHODS A survey was developed to assess genetic counselors knowledge of cord blood banking and therapies. This survey was also used to determine how often genetic counselors are talking about the subject in clinic and if they believe it is an important topic for them to be aware of. The principle investigator developed the survey with information drawn from literature regarding cord blood banking, advice from research mentors on the thesis committee, as well as relevant online sources such as The Parents Guide to Cord Blood Banking. The CSU Stanislaus University Institutional Review Board (IRB) approved the project # on January 22 nd There were four portions to the study survey: Demographics, Clinical use, Opinions, and Assessment of Knowledge. The Clinical Use section was used to define when, how often, and why genetic counselors are talking about cord blood banking and stem cell therapies with their patients. The Opinions section of the survey was meant to assess how valuable information about cord blood banking is to their personal practice and how important they perceive education about the topic to be. In this section participants were also asked about their personal experience with cord blood banking and why or why not they have chosen to bank cord blood themselves. In the last section of the survey, Knowledge Assessment, participants were asked a number of factual, multiple-choice questions about cord blood banking and stem cell therapies, to evaluate how knowledgeable they are about the subject. 9

19 10 The survey was then administered through the National Society of Genetic Counselors (NSGC) Student Research Survey Program. The survey was sent out to all members of NSGC by on Tuesday February 25 th 2014 followed by an e- mail reminder one week later. The survey was terminated on Tuesday March 11 th allowing for a total of two weeks for survey collection. Inclusion criteria for this study required that participants be certified genetic counselors through the American Board of Genetic Counseling (ABGC) or the American Board of Medical Genetics (ABMG). If the participant did not indicate this, the survey was terminated. Although the survey was sent to NSGC members, it was not required that participants be a member in order to participate. Whether the participant consented to the survey and whether they were certified were the only questions that participants were required to answer. After completing the survey, participants were invited to fill out a separate survey where they had the option of entering a drawing to win one of ten, $35 Amazon.com gift cards. Although providing a mailing address was required to send the gift card, participants were given the option to remain completely anonymous otherwise. Gift card information was also kept completely separate from participants survey responses. A random number generator online was used to draw ten numbers from the 156 participants who entered into the drawing. Of the ten numbers chosen, all participants had provided an address at which to contact them. An (Appendix B) was sent to the winners, stating that they had been randomly drawn and would be receiving a gift card in the mail. Gift cards were sent by US postal service

20 11 to the winners along with another message thanking them for their participating and reminding them of their rights as a participant. Once all surveys were collected, data was downloaded from Qualtrics online survey software to SPSS and Microsoft excel for analysis. When possible, data was also analyzed directly using the Qualtrics software online. Descriptive statistics figures were designed using Microsoft Excel. Analysis of variance was performed through the SPSS program using Leven s test for homogeneity of variance and Tukey s test for post hoc pair-wise comparison. Certain questions in the survey involved answers that requested free response clarification. Explanations were coded for emerging themes and representative quotes were chosen to illustrate each of the major themes.

21 RESULTS The main goals of this study were to assess how much knowledge genetic counselors have regarding cord blood banking and stem cell therapies, when and why they are talking about it, how important they view this information to be, and their opinions on the subject. The goal in collecting this information is to provide recommendations on how to best direct educational efforts towards the genetic counseling community so that they may better serve their individual patients needs. Data collected from the survey was analyzed to address these questions using mainly descriptive statistics, and one-way analysis of variance (ANOVA). DEMOGRAPHICS A total of 218 respondents provided consent and agreed to participate in the study. Only 186 respondents (86%) indicated that they were board certified genetic counselors. Those who indicated that they were not board certified were directed to the end of the survey to enter the gift card drawing, but were not asked any further questions. The average years of experience of participants was 8 years (n = 181) and the average age of participants was 34 years (n= 179) (Table 1). Respondents were asked in which specialties they were currently working in and were permitted to choose more than one. Specialties with the greatest representation were Prenatal (n = 78), Cancer (n = 64), and Pediatrics (n = 47) (Table 1) (Figure 1). The specialties of participants who chose Other included neurology, newborn screening, telephone counseling, cystic fibrosis and laboratory counseling. When asked whether they were 12

22 13 currently seeing patients, 158 participants (88%) (n = 180) indicated yes, while 22 (12%) did not. Table 1 Demographics of Respondents Variable Numbers (%) Years of Experience N= Mean 96 (53) 40(22) 17(9) 8(4) 7(4) 13(7) 8 years Age (years) N= Mean 80 (45) 44(25) 20(11) 11(6) 13(7) 10(6) 34 years Current Specialty a Prenatal 78 (43) Pediatrics 47(26) Cancer 64(35) Infertility 7(4) Hematology 4(2) General 29(16) Cardiology 20(11) Industry 12(7) Other 29(16) Note. N may differ because respondents were not required to answer all questions a Respondents were allowed to choose multiple specialties

23 14 50% 45% 40% 35% 30% 25% 20% 15% 10% 5% 0% 43% 35% 26% 16% 16% 11% 7% 6% 4% 2% Figure 1. Distribution of participants current specialties. Note. Responses added to greater than 100% because multiple responses were allowed KNOWLEDGE To assess genetic counselors knowledge of cord blood banking and stem cell therapies, the survey included an Assessment of Knowledge portion in which participants were asked 12 multiple choice, factual questions regarding the subject. Each correct answer was rewarded one point to determine a final score out of 12. All incorrect answers were awarded zero points. All questions included an I don t know response option, which was also awarded zero points. Only completed assessments were included in the analysis. Of the 186 board certified counselors who completed the survey, 175 (94%) completed the assessment of knowledge section and were included in the analysis. The average score out of twelve was 3.74 (SD = 2.25). When formatted as a score out of 12, the average score was.31 (SD =.19).

24 15 The minimum and maximum were 0.00 and respectively, indicating that no participant answered all questions of the assessment correctly and some did not answer a single question correctly. A one-way ANOVA was performed to assess if there was a significant difference in the knowledge of cord blood banking and stem cell therapies based on participant s current specialty. Specialties other than prenatal, cancer and pediatrics were grouped together into an Other category. Because participants were allowed to choose more than one specialty, prenatal, pediatrics and cancer were divided into those who only practice one and those who practiced more than one, creating a total of 8 groups prenatal, pediatrics, cancer, prenatal & pediatrics, prenatal & cancer, pediatrics & cancer, prenatal & pediatrics & cancer, and other. When grouped this way and using p <.05, it was determined that the specialty of the counselors did not have a significant effect on their cord blood knowledge, F (7, 167) = 1.059, p =.39, η 2 =.04. Homogeneity of variance could be assumed since the Levene s test was not significant, F(7, 167) = 1.132, p =.345. Tukey s test was used for post-hoc pair-wise comparisons. For prenatal, pediatrics, cancer, prenatal & pediatrics, prenatal & cancer, pediatrics & cancer, prenatal & pediatrics & cancer, and other, (Ms (SDs) =.32(.20),.26(.16),.30(.19),.42(.24),.29(.19),.44(.05),.32(.20),.33(.17) respectively, p s >.34. Genetic counselors were also asked to make their own assessment of their knowledge of cord blood banking. In particular, they were asked to rank their knowledge of four different focuses of cord blood banking private banking, public

25 16 Table 2. Means and Standard Deviations of specialty groups knowledge scores Specialty M SD Prenatal Pediatrics Cancer Prenatal & Pediatrics Prenatal & Cancer Pediatrics & Cancer Prenatal, Pediatrics, Cancer Other a a Other includes any combination of other specialties Current clinical trials and emerging cord blood (stem cell) therapies current cord blood (stem cell) therapies Not at all knowledgable (1) 2 public cord blood banking Private cord blood banking Very knowledgeable (5) Responses Figure 2. Participant s perceived knowledge of four aspects of cord blood banking Note. n = 174 for current cord blood therapies, n = 175 for all others Note. Scores of 2,3, and 4 were not labeled banking, current cord blood (stem cell) therapies, and upcoming clinical trials and emerging cord blood (stem cell) therapies. A Likert scale was used to rank

26 17 knowledge, with a ranking of 1 indicating the respondent was not at all knowledgeable and a 5 indicating that they were very knowledgeable. Figure 2 shows the rankings of knowledge for each focus. Because responses of 2,3, and 4 were not labeled, 3 was interpreted as a neutral response, and 2 and 4 as being on either side of neutral. Rankings were then simplified into three categories responses of 1 and 2 were grouped into a not knowledgeable category, 4 and 5 were grouped into knowledgeable and 3 made up a neutral group. Figure 3 demonstrates that in all cases, the majority of genetic counselors regard themselves as not being knowledgeable. Of the four focuses, respondents reported having the most knowledge regarding private banking based on these questions having the smallest percentage (55%) in the not knowledgeable category and the greatest percentage (18%) in the knowledgeable category. Respondents reported having the least knowledge regarding upcoming clinical trials and emerging therapies based on these questions having the greatest percentage (79%) in the not knowledgeable category, the least percentage (3%) in the knowledgeable category. The current clinical trials focus was also more polarized than the other three focuses, having the smallest percentage (18%) of responses in the neutral category. The clinical trials and emerging therapies focus was the only focus in which no respondent felt that they were very knowledgeable (5). Current cord blood therapies and public cord blood banking had very similar overall knowledge rankings, with the main difference being that more respondents (55) (n=174) felt not at all knowledgeable (1) about public cord blood

27 18 banking than they did about current therapies (41) (n =175), which had more responses (66) in the 2 ranking. To determine where counselor s knowledge was obtained and possible avenues to improve education, participants were asked where they gained most of their knowledge regarding cord blood banking and stem cell therapies. Seven response options were provided, as well as an opportunity to specify any other educational venue. Figure 4 represents the settings in which counselors have learned about cord blood banking, while table 3 shows themes of other specified avenues. More knowledge (4, 5) Neutral (3) Less knowledge (1,2) 3% 13% 13% 18% 18% 26% 26% 27% 61% 61% 55% 79% Current clinical trials and emerging cord blood (stem cell) therapies current cord blood (stem cell) therapies public cord blood banking Private cord blood banking 0% 20% 40% 60% 80% 100% % of respondents Figure 3. Comparison of respondent s perceived knowledge between four focuses.

28 19 50% 45% 40% 35% 30% 25% 20% 15% 10% 5% 0% 44% 33% 27% 18% 15% 14% 12% 2% Figure 4. Avenues through which genetic counselors were educated on cord blood banking Note. Participants were allowed to choose more than one response Table 3. Other educational avenues specified by participants (n) Personal information gathering/internet (14) Jobs and rotations related to cord blood (3) Colleagues (3) Conferences (2) Media and press (2)

29 CLINICAL APPLICATION Participants were asked a number of questions regarding when and why they are, or are not, speaking to patients about cord blood banking and stem cell therapies. 93 respondents (51%) (n = 181) said that they had spoken to patients about cord blood banking and therapies, while 88 (49%) had not. The survey split into two different series of questions based on whether they answered yes or no. Figure 4 shows that the majority of participants who had spoken about cord blood banking and stem cell therapies, 44 (49%) (n = 90) said that the topic came up a few times a year. Zero respondents indicated that the topic came up more than a few times a month. Of those that responded a few times a month, there was no pattern as to their current specialties of prenatal (2), pediatrics (1), infertility (1), industry (1), and other (4). 0% 8% 7% 18% 49% A few times a year Once a year Every few years Once a month A few times a month 19% Figure 5. How often the topics of cord blood banking and stem cell therapies come up in genetic counselors practice. Note. Once a week and more than once a week were response options not selected by any respondent and correspond to the 0% 20

30 21 When asked how the conversation regarding cord blood banking came about, the majority of respondents (69) (77%) (N = 90) indicated that their patient had inquired about it and had no family history that would be an indication for private banking. Figure 5 shows other reasons that a discussion of cord blood banking came about. Although two respondents indicated an other reason, they did not specify the other reason. Zero respondents indicated that they had talked about cord blood banking because it was something they regularly discuss with patients. Those that said pediatrics was the setting in which cord blood had been discussed indicated that in more cases, this was because there was a family history of a diagnosed condition (whether the patient or genetic counselor brought it up). In comparison, those in a prenatal setting discussed the topic in a more general sense and less due to a family history of relevance. When asked what the reason was for discussing cord blood banking or stem cell therapies, the most popular answer was for general knowledge, unrelated to a diagnosed condition. Other options were for therapeutic options relating to a diagnosed condition and Other reason, please specify. Of the other reasons listed, three obvious categories were recognized, those being for sibling need, because the patient asked, and for future testing purposes.

31 22 90% 80% 70% 60% 50% 40% 30% 20% 10% 0% 77% The patient asked about cord blood banking but did not have a specific family history that prompted the discussion 46% There was a family history or daignosed condition that prompted the patient to ask about cord blood banking 30% There was a family history or diagnosed condition that prompted me to ask the patient if they've considered cord blood banking 2% 0% Other reason (please specify) I regularly discuss cord blood banking with my patients Figure 6. How the topic of cord blood banking came about. Note. Percentages add to >100% because participants were allowed more than one response (N = 90) Respondents who said that they had never spoken with patients about cord blood banking were asked why they had not discussed this topic. Fifty-five participants (66%)(n = 87) indicated that it was not relevant to their sessions, while 49 (56%) said that they did not know enough about the topic to discuss it. This question allowed multiple responses, indicating that it may be multiple factors causing counselors to not discuss the topic. Of the counselors who said that they had discussed cord blood banking, only 23 (26%) (n = 90) actually felt fully prepared to speak about it.

32 PERCEPTION OF IMPORTANCE Participants were asked in different ways to rank how valuable knowledge of cord blood banking is to genetic counselors. Figure 6 shows how participants rank their agreement with the statement Genetic counselors should have a good knowledge of cord blood banking and therapies. Of 177 respondents, the majority (71%) were on the side of agreeing with the statement, while just 15 (9%) were in disagreement. Of the 124 that agreed with the statement, 54 (44%) strongly agreed with the statement. Although participants agreed that genetic counselors should have a good knowledge of cord blood banking and therapies, Figure 3 demonstrates that the majority does not believe they have this knowledge in all aspects regarding cord blood banking and therapies. Participants were also asked to rank how important it is for genetic counselors to have knowledge of specific aspects of cord blood banking and therapies, specifically public cord blood banking, private cord blood banking and current and emerging therapies involving cord blood. In each category there was a scale of 1 to 5, 1 being not at all important and 5 being very important. The answers were grouped into categories of not important, important and neutral based on these responses and graphed in figure 7. Within the important category, private banking had less responses (50) (29%) ranking it as very important (5) compared to current and emerging therapies, which had 66 (38%) ranking it as very important (5). 23

33 24 9% 20% disagree neutral agree 71% Figure 7. Agreement with the statement Genetic Counselors should have a good knowledge of cord blood banking and therapies Not Important (1 & 2) 5% 8% 6% Neutral (3) 21% 24% 22% Current and emerging therapies Private banking Important (4 & 5) 74% 68% 72% Public banking 0% 20% 40% 60% 80% Figure 8. Comparison of respondent s ranking of the importance of knowledge regarding cord blood banking and therapies for genetic counselors. Note. n =172 for public banking, n =173 for private banking, and n = 176 for current and emerging therapies.

34 OPINIONS To gage counselors general opinions on the subject of cord blood banking and therapies, they were asked about their own personal experience with cord blood banking and when they might recommend it to patients. Most respondents (177) answered a question regarding whether they had banked or donated their own children s cord blood. Of the 64 respondents who had given birth to children in the past, 50 of them (78%) had not banked or donated their baby s cord blood, while 6 chose to privately bank and 8 chose to publicly donate. Respondents who had children but had not banked were asked why they had not done so. Twenty-seven respondents (54%) did not think banking was necessary, 13 (26%) had children before banking was available, and one (2%) did not know about cord blood banking. Eleven respondents chose other and were allowed a free text response. The overwhelming theme among these responses was that there was no easy way to publicly donate at their birthing location, although many indicated that they would have liked to. For example, one respondent who said: Private banking is not indicated and there is not a public option easily available at my hospital. Otherwise, I would have made a public donation. Another apparent theme was the timing involved with making the decision about banking, as one respondent pointed out, I planned to donate to the public bank but did not tell the hospital prior to labor and delivery and was then was not asked during labor and forgot to mention when I was in labor 25

35 26 Aside from why they had not banked their babies cord blood in the past, participants were asked if they would choose to bank or donate their future children s cord blood. If yes, which option and if no, why not? Figure 8 shows participants responses to whether they would consider cord blood banking in the future, with the majority indicating that they would consider public banking. Those that responded No were asked why they would not consider banking for future children. Many of the individuals who responded No indicated that it was because they were either past reproductive age, or were not planning to have any more children. Other responses are outlined in Table 3. Participants were asked whether they would recommend cord blood banking to their patients and were given response options of Yes, No, or Maybe. The type of banking was not specified in the question but participants were then asked to elaborate on their answer. Table 4 shows the various themes that emerged from each possible response, along with quoted examples from respondents. Many of the responses seemed to relate more to private banking than any other option. This inference was based on comments that mentioned the cost and need for the service despite public cord blood banking being both free and irrelevant to the donor s health or family history.

36 27 45% 40% 42% Percent of respondents 35% 30% 25% 20% 15% 10% 23% 28% 14% 29% 5% 0% Yes, public banking Yes, private banking Yes, If a family member was in need of a cord blood transplant No (please specify why) Don't know Figure 9. Participant responses: Would you consider cord blood banking for future children? Table 4. Reasons participants would choose not to bank future children s cord blood Reason (n) Example response No indication for (private) banking (4) Would consider public banking (2) There is no need/banking is not helpful (3) Cost (3) I feel this technology is not useful for a low-risk patient like myself I only think Public banking is worthwhile I don't feel it is that helpful I've never found that the benefit is worth the cost for those without a specific indication for doing so

37 28 Table 5. Reasons participants would or would not recommend cord blood banking to patients No (n = 10) Theme (n) Example Not relevant (3) Not relevant to current population Chances of using cord blood are low (2) It is my understanding that it is extremely rare for a family to benefit from blood that they have banked. Would not recommend anything (2) I discuss options and try to be nondirective about issue. Maybe (n = 61) Theme (n) Example If it were useful based on family history (17) Would discuss benefits and limitations if patient was interested (18) If I knew more about it (5) Theme (n) If there was a beneficial reason for doing so given family history or diagnosis If a patient was questioning whether or not cord blood banking would be useful, I would discuss it with them If I was confident in my knowledge base. Yes (n = 55) Example Would talk about both options with all patients (6) Discuss public with all and private if indicated (7) When there is a specific reason or family history (31) Public and private, under all circumstances. Patients should know that is available no matter their family or personal history. I would typically recommend public banking, unless there is a specific close relative that may benefit from the stem cells for therapy If there is a known family history of a genetic condition whose treatment may benefit

38 DISCUSSION Through this survey, genetic counselors have demonstrated their limited knowledge regarding cord blood banking and associated stem cell therapies. Genetic counselors indicate that they are not discussing public or private banking options with their patients at appropriate times, if at all. Participants pinpointed many gaps in the education of genetic counselors and the impact of these on their practice. Assertions made by genetic counselors within free response sections indirectly demonstrate a focus on private banking, implying that they are not considering public banking as a point of discussion. By providing education to genetic counselors, the general population may also benefit by having all options presented to them as well as an expanded cord blood supply. Many factual questions about cord blood banking and therapies were asked of participants to gage their knowledge of the subject. As a mean score of 3.74 out of twelve questions demonstrates, genetic counselors have very limited knowledge about cord blood banking and stem cell therapies. A difference was not seen between the specialties represented, indicating that all genetic counselors, regardless of their clinical setting, are lacking a basic understanding of the subject. Stem cells are being used as treatment and therapy for many genetic conditions and are being studied as a treatment for even more conditions relevant to genetic counselors. As a favored source of stem cells, cord blood and cord blood banking options are important subjects for genetic counselors to be able to inform their patients about. Not only did participants demonstrate this lack of knowledge, but they also recognized it when 29

39 30 ranking their own knowledge for various aspects of the topic. Many participants indicated through free response that they did not know enough about cord blood banking to feel comfortable talking to patients about it. This was also indicated by those who had not spoken to patients about the subject as being a main reason why they had not done so. It is possible that with the proper education, the subject may be broached more often and in more appropriate situations within genetic counseling sessions. This data indicates that further education would be appropriate for all genetic counselors despite their clinical setting. Although their lack of knowledge was revealed, there was consensus among participants regarding the value of that knowledge. Figure 7 shows 71% of respondents agreed that in general, knowledge of cord blood banking and therapies was important for genetic counselors. This data suggests that counselors feel it is within their realm of practice to speak with patients about cord blood banking a key point in determining whether counselors would be perceptive to education regarding the subject. Even more, Figure 8 shows that between public banking, private banking and current and emerging stem cell therapies, genetic counselors found them all to be equally important aspects of that general knowledge base. If counselors were more informed about the advantages of cord blood banking, it is possible that they may feel even more strongly about the importance of the information. As it is, counselors recognize this gap in their knowledge, but also recognize that it is important for them to learn more. Both acknowledging the significance of the subject

40 31 and viewing it as within their scope of practice are clues that not only should educational efforts be made, but that it is appropriate for this population. Of the counselors who had spoken with patients about cord blood banking and/or stem cell therapies, many of them said that the patient had brought up the topic themselves, typically for general information, but in many cases due to a family history of disease. An even smaller proportion said that they themselves had broached the subject because of a relevant family history. About half of the respondents had never spoken with patients about cord blood banking. It is troubling that within a genetic counseling setting in which a family history is taken and risk to family members assessed, the patient must introduce the subject themselves in order to be presented with the option of cord blood banking. There are many patients who may not have been informed enough to bring up the subject themselves and never learned of that option. If an obstetrician was to bring up this point with patients it may not necessarily be in the context of an inherited condition as it would be with a genetic counselor. In making risk assessments for patients, knowing the natural history of a disease, the prognosis and possible treatments are expected of genetic counselors. Without being aware of cord blood banking or possible therapies that could come from it, there may be many missed opportunities to discuss the advantages with patients who would make that decision. Patients with a family history of disease are given special attention in the perspective of private cord blood banking because it is often for that reason that a family will choose to bank a child s cord blood. Although this is fair, it is also true

41 32 that any individual may make the choice to bank their child s cord blood. Leukemia is a major indication for cord blood stem cell transplantation and in most cases is unrelated to a family history. When asked whether counselors would recommend cord blood banking to their patients, many said that they would only introduce the topic in the case of a family history of relevant disease. While this approach may be appropriate in certain settings such as pediatric or cancer counseling, in a prenatal setting it is important that all patients, regardless of family history, know of their options. Many respondents also said that they would not recommend cord blood banking to their patients because they did not think the cost was worth the chance of using the cord blood, or that it was not worthwhile. In a field that emphasizes nondirectiveness, genetic counselors should be comfortable allowing patients to make that assessment for themselves after presenting them with the benefits and limitations. In focusing on families with a significant history, counselors are also missing the opportunity to present public cord blood banking as an option to their patients. Only a very small number of participants in this survey expressed their belief that all patients should be presented with all cord blood banking options. Those who cannot afford to privately bank their child s cord blood may rely on the supply in public banks as a source of stem cells for treatment. If no one is aware of public banking, the number of available units remains small and individuals of mixed ethnic background will struggle to find an HLA match. Genetic counselors have the opportunity to address a public health dilemma by presenting all options to their patients and

42 33 indirectly increasing cord blood supplies while ensuring that families who wish to privately bank are given the opportunity to do so. Counselors were asked about whether they had or had not banked their own children s cord blood. Many of the respondents did not have children, and of the ones who did, only a small amount had participated in any type of banking. Of those who had not, some indicated that timing and availability was a reason that they had not done so. In the case of public cord blood banking, patients must indicate that they wish to donate before 34 weeks depending on the hospital at which they deliver. This creates an obstacle for many women who do not hear about cord blood banking early on in their pregnancy or who are not at a hospital that has a built-in collection system. Inadvertently, genetic counselors have pointed out the flaws in the system as well as an added role that prenatal genetic counselors can play. If women were educated about cord blood banking by a prenatal care provider, or as part of general prenatal education, they would be more likely to have the time and resources to set up collection no matter where they deliver. It is also possible that many more women would choose to publicly donate their baby s cord blood if they were aware of the option, with the simple motivation of helping others. Participants demonstrated this themselves as figure 9 shows that 43% would consider public donation for future children. Counselors in other settings can also play an instrumental role by identifying families that may consider cord blood banking and making them aware of the process.