Factors Impacting Adolescent and Young Adult Cancer Patients’ Decision to Pursue Genetic Counseling and Testing

Abstract

Purpose

Adolescent and young adult (AYA) cancer patients face challenges when navigating cancer treatment and survivorship. Many are at risk for cancer predisposition syndromes, however, factors influencing pursuit of genetic counseling and testing have not been reported. We describe AYA cancer patients’ decision-making process, including motivational factors and barriers, as it relates to utilization of genetic services.

Methods

30 AYAs diagnosed with cancer previously referred for cancer predisposition genetic counseling completed semi-structured interviews via audio-only Zoom calls. Thematic analysis was used to perform qualitative analysis and identify major themes.

Results

The sample comprised 21 AYAs who had genetic counseling and nine who did not. Motivational factors identified included learning genetic counseling is an available service, concern about the impact of a hereditary syndrome on family members and family planning, learning about the need for cancer screening or prevention, affordability of genetic testing, and easing worry about additional cancer risks. For those who did not pursue genetic counseling, barriers included scheduling or other priorities, worry, and cost. However, the majority expressed they would reconsider genetic counseling in the future.

Conclusion

AYA cancer patients have similar motivational factors to pursue genetic counseling compared to other patients; however, their younger age of diagnosis may alter how these factors affect decision making. While there are barriers limiting access to genetic services, they did not decrease interest in future genetic counseling for most patients. Genetic counseling and testing should be discussed with patients who previously declined genetic services.

INTRODUCTION

Each year approximately 90,000 adolescents and young adults (AYAs), aged 15–39, are diagnosed with cancer, comprising 6% of all cancers diagnosed annually and accounting for the leading cause of non-accidental death for this age group [1, 2]. AYA cancer patients and survivors face challenges, including increased secondary cancer risk, infertility, short- and long-term treatment related side effects, susceptibility to depression and anxiety, education and work transitions, financial concerns, and access to genetic counseling and testing (GC/T) [3, 4].

Due to their younger age of diagnosis or other clinical indications, many AYAs meet established criteria for germline genetic testing (GT) for hereditary cancer syndromes [5–8]. Approximately 5–10% of all cancers are hereditary, with similar rates in pediatric cancers [9, 10]. The most common genes in which pathogenic variants are identified in this patient population are: TP53, APC, BRCA2, NF1, PMS2, RB1, and RUNX1 [9]. Cancers associated with these genes can include: sarcomas, leukemia, gliomas, adrenocortical carcinoma, hepatoblastoma, and retinoblastoma [9]. Benefits of finding a germline pathogenic variant in one of these genes, or another gene associated with a hereditary cancer syndrome include additional screening which may include imaging or lab work, prevention opportunities, like risk-reducing surgery, and the ability to test unaffected family members for the same variant [11]. For example, if a pathogenic variant was identified in TP53 in an AYA patient after their own sarcoma diagnosis, they would learn that they are also at increased risk for cancers such as breast, brain, adrenocortical, and leukemia, among others [7]. This would prompt early screening for these cancers through annual whole-body MRI, brain MRI, blood tests, breast screening, and discussion of risk-reducing surgeries like a prophylactic mastectomy [7].

When making a decision about GC/T, awareness of these services impacts patients’ decisions to pursue them [12]. Prior studies among patients with a family history of breast and/or ovarian cancer, non-polyposis colorectal cancer, and colorectal cancer survivors have identified motivations for GT, including: a desire to aid cancer research, obtain information for children or other family members, reduce uncertainty, protect their health through screening and prevention, and receiving a recommendation of a health care provider [13–16]. Worry also plays a crucial role in patients’ decision making. In one study, higher worry about cancer was associated with positive attitudes about the benefits of GT, whereas high perceived cancer risk may be associated with skepticism of, and concern with, negative emotional consequences of GT [16].

While there have been some studies describing motivations to pursue GT within specific groups of AYAs, they have a narrow focus. One focused on AYAs without cancer, but at risk for a known familial hereditary cancer syndrome, and found that parental involvement played a large role in decision making [17]. Several studies have described AYA motivational factors for individuals with, or at 50% risk for, Li-Fraumeni syndrome, which included reducing uncertainty, protecting family members, and initiating screening [18, 19]. However, these studies lack information about other cancer predisposition syndromes or those with a lower risk to have a hereditary cancer predisposition syndrome.

The Health Belief Model (HBM) is a widely used theory to explain and predict health behaviors. The HBM constructs of perceived susceptibility, perceived severity, perceived benefits, perceived barriers, cues to action and self-efficacy, are important components of an individual’s decision making and health behavior[20–23]. Prior studies have successfully used HBM constructs to study the underlying attitudes and beliefs that inform the health behaviors of genetic counseling and genetic testing by using the constructs in creation of surveys or interview guides. However, these prior studies have focused on adult hereditary cancer populations and not AYA cancer patients [24, 25]. Additionally, prior research has not assessed factors impacting a broader group of AYA cancer patients, and their decision-making for GC/T, nor have they adequately addressed those without a family history of a hereditary cancer predisposition syndrome or clinical diagnosis. To address this research gap, we conducted a qualitative study, with questions incorporating HBM constructs, among AYAs at risk for cancer predisposition syndromes to identify attitudes, beliefs, and factors influencing utilization of GC/T.

METHODS

This study was approved by institutional review boards at the University of Texas MD Anderson Cancer Center (2020–0241) and the University of Texas Health Science Center at Houston (HSC-MS-20-0533).

Participants

The MD Anderson AYA Program serves patients ages 15–39 in active treatment or survivorship through a multi-disciplinary clinic that offers services to address needs specific to AYAs, including fertility, school and career goals, and quality of life issues. A genetic counselor reviews medical records of all patients referred to the AYA program to determine if GC is recommended. The genetic counselor uses consensus-based practice statements, current literature, and clinical judgement to determine which patients’ medical history is concerning for any hereditary cancer syndrome. This prompts a recommendation to the AYA medical providers, who then offer the genetics referral to patients during their initial consultation. All patients receiving a GC referral were deemed “at-risk” for a hereditary cancer predisposition by the genetic counselor, thus warranting the GC evaluation. Patients may agree, decline, or defer the GC referral.

Eligible patients included those aged 18–39, English-fluent, seen in the AYA program after July 12, 2018, and received a GC referral. Completion of genetic testing was not a requirement of eligibility, and data regarding outcomes of genetic testing was not collected as part of this study. Participation was voluntary and no incentives were provided for participating in the study.

Study Design

Patients were purposefully sampled to include those that met and did not meet with a genetic counselor, balance between sexes, and include approximately equal numbers of those aged 18–29 and 30–39. Patients were grouped based on age to include patients in their teens and 20s, as well as AYA patients in their 30s to capture the variety of life experiences. Selected patients were sent an invitation to participate through the electronic medical record (EMR), followed by a phone call from study personnel. After providing informed consent for participation and audio recording, participants completed semi-structured interviews over Zoom (Version 5.5.4) audio calls (M.M.). An interview guide was informed by the constructs of the HBM through a subset of questions outlining each construct, and motivational factors published on other patient populations. For example, the HBM construct of cues to action informed the question’ “Was there a specific moment or experience that made you chose to pursue or not purse genetic counseling?” and the construct perceived susceptibility informed the question, “After being referred, did you have a ‘gut feeling’ or intuition about of your cancer might be hereditary?” The interview guide was structured to collect information about the participants cancer journey, family, and general understanding of hereditary cancer and GC. The full interview guide is provided in Appendix A. The interview guide was reviewed by an AYA cancer survivor for understanding and appropriateness prior to beginning interviews. Interviews ceased when no new themes emerged from data collection [26, 27]. Interviews were audio recorded, transcribed, and reviewed by research personnel prior to data analysis. Demographic information including age, sex, race/ethnicity, primary cancer diagnosis, age at diagnosis, length of time between diagnosis and genetic counseling referral or appointment, and insurance type were collected from the EMR.

Analysis

Qualitative data analysis was performed through thematic analysis using ATLAS.ti software, version 9.07 [28, 29]. Prior to beginning analysis, primary coder (M.M) was trained by an experienced qualitative coder (J.C) on how to qualitatively code a transcript, create a detailed code book, and how to establish broader themes from the code book. The code book was created (M.M.) and reviewed with a second coder (J.C.). Primary and secondary coders reviewed five transcripts and compared coding results, discussing any noted discrepancies. Code discrepancies were discussed between coders until a consensus code was reached for that section of the transcript, or as needed, a new code was added to the code book. After completion of five transcripts, there was an initial inter-coder reliability of 85%, prior to resolution of discrepancies, with a final inter-coder reliability of 100% after discussion of discrepancies [30]. The remaining transcripts were coded by the primary author.

RESULTS

Of 133 eligible patients, 99 were purposely sampled and contacted through the EMR patient portal. Of those, 41 (41%) could not be reached by phone, 24 (24%) declined, and 4 (4%) scheduled, but did not complete an interview (Figure 1). Thirty completed interviews, including 20 (67%) females and 10 (33%) males whereby, 21 (70%) attended their GC appointment, and 9 (30%) did not. Participants’ cancer diagnoses and demographic information are shown in Table 1.

Figure 1:

Flowchart of participant sampling

Table 1.

Participant (n=30) demographic information at time of the study

Characteristic	n	%
Mean age (range), years	27.6 (18–38)
Age group
18–29	17	57%
29–39	13	43%
Sex
Female	20	67%
Male	10	33%
Attended genetic counseling appointment
Yes	21	70%
No	9	30%
Race/Ethnicity
White/Caucasian	21	70%
Hispanic	6	20%
Black/African American	2	7%
Asian	1	3%
Primary Cancer Diagnosis
Sarcoma	14	47%
Leukemia	3	10%
Carcinoid tumor/carcinoma	2	7%
Desmoid tumor	2	7%
Oligodendroglioma	2	7%
Other	7	23%
Age at cancer diagnosis, years
Pediatric (0–14)	8	27%
AYA (15–39)	22	73%
Length of time between primary diagnosis and genetic counseling appointment or referral, years
<1	13	43%
1–5	6	20%
6–10	3	10%
>10	8	27%
Type of insurance at time of appointment or referral
Private	25	83%
Public	1	3%
Military	3	10%
Self-pay (with patient financial assistance)	1	3%

Motivational Factors to Pursue Genetic Counseling and/or Testing

Across all participants, regardless of GC attendance, several motivational factors emerged: learning about hereditary cancer and genetic counseling, concern for family members, gaining information about current diagnosis or future care, affordability of genetic services, and easing worry about personal or family cancer risk. Additional quotes and the number of respondents whose interviews included each theme are shown in Table 2.

Table 2.

Specific quote examples

Themes	Representative Responses
Motivational Factors
Learning about hereditary cancer and genetic counseling	“I had been asking these questions about genetics and heard about genetic testing and immediately said, ‘Yes, yes. I want to do it. Sign me up.’”
Concern for family members	“‘Is my child at risk?’ That was my first, immediate, and still is a concern for me to this day.” “Just the unknowing of my father’s family history…is there any type of cancer that I should be aware to look for?” ‬
Gaining information about current diagnosis or future care	“I wanted more information about how I got it [cancer].”
Affordability of genetic services	“I was told very early on that it would be affordable…and it was.” “It was one of those things when looking at it, it was just, okay, well, if we can’t afford it this trip, then we can make it a priority to be able to afford it next time we come out.”
Easing worry about personal or family cancer risk	“It was more of, I guess, the anxiety of not knowing… but that anxiety and the stress was minimal to what I could possibly learn.” “I think worry and stress were probably huge motivators. I was definitely immediately worried when I got diagnosed about my daughter.”
Barriers
Scheduling and other “more pressing” priorities	“The worst part of it for me what just having to go to another appointment.” “I want to make sure that stuff is figured out where I can start actually doing the rest of my treatment first, before I start really looking into other things.” “I don’t see the necessity of going to a genetic counselor right now…I have other stuff on my mind.”
Worry about coping with genetic testing results	“You just have to believe everything is okay and you can’t live with the fear.”
Cost of genetic services	“That’s specifically been my biggest hurdle is I just don’t have the funds to just go see a [genetic counselor] with my personal funds.”

Learning about hereditary cancer and genetic counseling

Participants indicated that learning that genetic services were available was crucial to their decision-making, “I didn’t know I would need it…didn’t know it was available…more than anything I didn’t know I had a reason to do it.” Many expressed that they were unaware of the option of GC until they had conversations with a healthcare provider about this resource. Other participants had questions about genetics related to their cancer but did not know what their options were for addressing those questions.

Concern for family members

Concern about other family members’ risk for cancer, including children, siblings, and nieces/nephews was a strong motivational factor for many AYAs to pursue GC. GT impacted family planning considerations. Some participants without children, concern for possibly placing their children at risk for cancer was a factor in whether or not they would have biological children, thus reinforcing their decision to have genetic testing. One participant stated, “I realized just very deeply that if I do have this genetic version, I don’t want to have to go through what my mother did. I don’t want to have to put a child through what I went through.” Other participants expressed that their family history of cancer played a larger role in whether to pursue genetic services. Many were concerned about the possibility that cancers in other family members might be hereditary, while some were concerned by not knowing details about their family history. A desire to learn more about possible hereditary factors running through the family helped motivate these individuals.

Gaining information about current diagnosis or future care

Many participants described the desire for information about their cancer as a motivational factor. Some wanted to figure out why they got cancer. Others were driven by the opportunity to discover information that could help with treatment. Several individuals wanted to know if they were at risk for other cancers, specifically if screening or prevention would be an option in the future, like the participant that said, “When the opportunity was afforded, it was just kind of a no-brainer…if I can prevent what I’ve already gone through now again, if it was a possibility, I would take it.”

Affordability of genetic services

Some individuals indicated they were more willing to pursue GC/T due to it being affordable. Some participants reported that they would have pursued GC no matter the cost, while others scheduled the appointment when they knew it fit into their budget. Several participants indicated that being able to afford GT was their primary motivational factor; however, for most participants it was a secondary motivational factor, and being able to afford the services was an added benefit.

Easing worry about personal or family cancer risk

For several participants, worry about the possibility their cancer was hereditary motivated them to pursue GC/T quickly. They described this uncertainty as more worrisome than the possibility of learning their cancer was hereditary. Others described experiencing a worry that their cancer was hereditary upon diagnosis, and that this stress was the driver for having GC. Some individuals had worries specifically about family and combined the two motivational factors as a reason to pursue GT. While this is one example of multiple factors influencing a patient’s decision, most participants described a combination of the motivational factors playing a role in their decision making.

Perceived Barriers to Pursue Genetic Counseling or Testing

For those participants who did not attend a GC appointment, several themes emerged as barriers actively prohibiting them from accessing genetic services including scheduling and other “more pressing” priorities, worry about coping with GT results, and cost of genetic services.

Scheduling and other “more pressing” priorities

For some participants, the idea of adding another appointment mid-treatment or soon after spending so much time at the hospital was overwhelming. Others traveled a significant distance for outpatient appointments and had difficulties scheduling GC during their visits. Some individuals expressed a need for time to focus solely on their cancer diagnosis and treatment, and that they were not able to add anything else to their schedule until they were able to processes additional information. Life events such as going to college, finding a job, and raising a family were also higher priority for several participants.

Worry about coping with genetic testing results

While some participants described easing worry about personal or family cancer risk as a motivational factor, for many this worry was a barrier keeping them from pursuing GC/T. Participants learned to cope with living in the unknown before they were ready for the potential information genetic testing may bring. One participant described: “As a cancer survivor, there’s been just a lot of anxiety, kind of processing, as an adult, the trauma that I went through as a child. And so I have to be very mindful and careful of what I choose to reopen and expose myself to. And to worry kind of about the future of what that could entail with hereditary cancer just kind of makes me anxious. And at this moment it’s not really something I really want to focus on.” Others discussed concerns with how they would cope with learning if their cancer was hereditary or weren’t ready to make decisions that may come with the diagnosis of a hereditary cancer syndrome.

Cost of genetic services

For some, the greatest barrier was being unable to afford GC/T. One participant discussed lack of insurance coverage and limited personal funds making it too difficult to attend the appointment. The cost of genetic testing is often covered by insurance, but participants expressed concern about the cost of their GC appointment and whether it would be covered by insurance or would be cost prohibitive.

While these participants discussed barriers keeping them from having attended the GC appointment at the time of the interview, 6 (67%) of the participants who did not attend their appointment indicated they were interested in pursuing GC/T in the future.

DISCUSSION

Prior studies suggest few AYAs at risk for hereditary cancer predisposition syndromes pursue GC/T [31]. To the authors’ knowledge, this is the first study to describe the motivational factors and barriers in this patient population’s pursuit of GC/T without a focus on known familial variant (KFV) or a specific hereditary cancer predisposition syndrome. While many factors that impact AYA’s decision to utilize genetic services are similar to other at risk patient populations and the current literature on AYAs motivational factors, there are some specific factors such as not yet having children, having younger children, and placing a higher value on the “why” surrounding their cancer diagnosis impact these previously described motivational factors. Additionally, those without a KFV or clinical diagnosis likely have differences in motivational factors not yet reported.

The finding that patients pursue genetic services in part because it was offered by a healthcare provider has been described in other patient populations [15]. Our study highlights the importance of healthcare providers initiating these conversations and educating patients about their options as they navigate their cancer treatment and survivorship. This could include sharing that GT may provide information about treatment or future cancer risks. As these conversations are initiated, it is important to note that patients from underserved backgrounds are less likely to have access to GC services [32]. It has been previously described that a challenge of care in the AYA cancer setting is the overwhelming amount of decisions that patients must make in a state of distress and accelerated treatment, and that many rely on health care providers to make these decisions [33]. This highlights that AYA patients are relying on healthcare providers throughout their cancer journey, including being made aware of additional services available to them.

Similar to other patient populations, our participants were motivated to pursue genetic services to gain information for family members. In the AYA population; however, many patients do not have children at the time of their cancer diagnosis or GC appointment. They want information for other family members, but they also want to know the risk of having a child with a hereditary cancer syndrome. The weight of the decision to have biological children is particularly stressful for this younger patient population. Similarly, AYA patients with children, their children tend to be younger in age, which for this patient population may be close in age to their own diagnosis. While anyone at risk for a hereditary cancer syndrome may worry about cancer in their children, for our AYA participants, that worry started when children were at a much younger age.

While previous studies have discussed influence of other family members, like parents, encouraging or pressuring their children to pursue testing, this was not something discussed by our participants [18]. This may be in part due to parents who harbor the KFV themselves having a more active role in the discussion of decision making for children, and may be more direct about a child’s decision pursue GT. Whereas a parent who does not harbor a KFV may not be as personally invested in the GT process.

Those who develop cancer at younger ages may spend more time thinking about what caused the early onset cancer and they may place higher value in the “why” that GT could give them. Similarly, worry has been described as both a barrier and motivational factor in other patient populations [16]. For some the thought of family planning, additional screening, and knowing that they are at risk for other cancers appeared to be more detrimental to their mental health than being unsure if their cancer was hereditary.

Multiple participants discussed that scheduling or attending numerous appointments was a barrier. Increased access to telehealth and more flexible scheduling may expand opportunities for some patients, however, individuals delaying GC/T until they get through treatment and are “ready” to pursue testing, and having other priorities to focus on, such as life events of attending college or starting a career, may remain barriers. However, most of the patients interviewed who did not attend a GC appointment stated it is something they would consider in the future.

Implications for Clinical Practice

For healthcare providers seeing AYA patients who have a personal or family history concerning for a hereditary cancer syndrome, a conversation about GC and what it can offer is vital. Since our study showed that not all patients are ready to pursue GC during or immediately after treatment, this conversation should happen again at future appointments if a referral is initially declined or if they do not attend their GC appointment, and should include discussion of financial considerations to ensure patients are aware of the potential insurance coverage and costs. Previous studies have described the importance of how these conversations are approached [12]. To be prepared for these discussions, more focus on cancer genetics in training may be beneficial to AYA healthcare providers.

For genetic counselors meeting with AYA patients, it may be more important, compared to working with an older adult population, to explore a patient’s desire to have children, how genetic test results might impact that decision, and reproductive options such as in vitro fertilization and pre-implantation genetic testing. It may be beneficial if oncofertility specialists were included in the multidisciplinary care team of AYA patients. Additionally, patient worries should be used to help guide the decision-making process. Genetic counselors can identify specific concerns of the patient, and work together to address barriers and make a plan for when would be best time to consider GT.

Limitations

One limitation of our study is the lower rates of participation among male AYA patients and those who did not attend GC. Although contacted at the same rates, females answered the phone more often than males and participants who did not attend genetic counseling were less interested in participating in this study. Since we have a lower response rate in these groups, we may not have elicited barriers that prevent these groups from pursing GC.

While our findings may be generalizable to AYA patient populations, our study population was recruited from a tertiary oncology care center, were exclusively English speaking, and had high rates of private insurance coverage. While this reflected the demographics of the patient population where the study was conducted, further studies in under/un-insured patients from diverse backgrounds would be beneficial. Insurance coverage is likely associated with our finding of affordability being a motivational factor and cost may be a larger barrier in other populations. Additionally, cost of genetic testing is a relevant factor; however, billing processes and policies are coordinated by commercial laboratories, and individual patient insurance policies may differ in their approval and reimbursement rates All genetic testing offered to patients was through US-based commercial laboratories, which offer insurance billing, patient self-pay, and financial assistance programs.

Finally, the overwhelming majority of those who pursued genetic testing voluntarily disclosed that they tested negative for a hereditary predisposition to cancer, which may bias toward participants feeling more reassured by GT results. Comparatively, those who did not attend GC did not have the opportunity to have reassuring genetic testing results and described their worry more as a barrier. It may be beneficial for future studies to explore how patients who test positive for a hereditary cancer syndrome describe their motivational factors within the AYA population.

Future Directions

Future research should assess motivational factors among AYA patients in other settings, such as community hospitals, or institutions that do not have a specific AYA program and patients of other sociodemographic backgrounds, including patients who speak a language other than English, Additionally, interventions to minimize reported barriers through quantitative studies about the length of time from diagnosis to GC appointment, and cost of GC and testing are needed in the AYA population.

In conclusion, our study describes motivations and barriers to GC/T in the AYA population. Conversations about genetics services should be initiated and continued by health care providers throughout a patient’s cancer journey, as not all barriers preventing a patient from attending a GC appointment are permanent. Additionally, the unique aspects of the identified motivational factors should be used to tailor conversations to best serve the AYA patient population.

Figure 2:

Themes

Availability of data and material and codes:

Not applicable