A Qualitative Exploration of Oncology Clinician’s Needs for PGT-M Discussions in Clinical Practice

Abstract

Purpose:

Oncology clinicians are appropriately positioned to facilitate discussions of assisted reproductive technologies including preimplantation genetic testing for monogenic disease (PGT-M), in the context of cancer treatment or surveillance. Yet, reproductive services, including PGT-M, remain one of the least implemented services in oncology. No studies to date have explored which practice resources the clinicians need to increase knowledge of PGT-M. The objective of this study was to explore the specific needs of oncology clinicians to help maximize the reproductive potential of young adult patients with hereditary cancers.

Methods:

Participants were recruited through notices circulated on social media platforms and snowball sampling. Participants completed a brief online survey to confirm eligibility. Eligible participants completed a virtual, semi-structured interview. Interviews focused on clinician experiences with PGT-M and initiating referrals to fertility specialists. Thematic analysis was conducted using a constant comparative approach to identify current clinical practices.

Results:

This study found that PGT-M discussions are not necessarily within the scope of responsibilities for oncology clinicians owing to prioritization of cancer treatment and overall lack of knowledge. Participants need accessible resources and timely support for reproductive planning in the context of cancer treatment. Participants desire a streamlined referral pathway to professionals trained in oncofertility to help address their patient’s reproductive needs.

Conclusion:

Our study identified that educational and referral resources to reproductive specialists are needed to maximize reproductive potential across the cancer continuum. These findings provide a foundation for larger studies that can inform standard-of-care recommendations in the emerging field of oncofertility.

Introduction

Genetic testing for hereditary cancer syndromes (HCSs) is an accepted practice, endorsed by professional organizations for those individuals who meet established clinical guidelines.¹ With cancer genetic testing available in both clinical and direct-to-consumer markets, more patients of reproductive age are likely to undergo genetic testing for HCS.^2,3 In addition, improved cancer survival rates have helped to shift attention from “focusing exclusively on preserving life to preserving the quality of life after treatment,” allowing for fertility and reproductive implications to be more heavily considered.⁴ Increased patient demand for preimplantation genetic testing for monogenic disease (PGT-M), including conditions with adult-onset and incomplete penetrance, is well documented.^5–7 This growing population of young adult patients and previvors (defined as unaffected individuals with HCS) of reproductive age underscores the need for detailed clinician-initiated conversations of PGT-M for HCSs. PGT-M is an assisted reproductive technology (ART) used in conjunction with in vitro fertilization (IVF) to reduce the risk of having a child with an inherited single-gene disorder. PGT-M results help determine which embryos are unaffected (with the familial variant) and should be selected for transfer.⁸ The American Society for Clinical Oncology (ASCO) states that “all oncologic healthcare providers should be prepared to discuss infertility as a potential risk of therapy” and “refer all potential patients to appropriate reproductive specialists.”⁹ However, ASCO guidelines do not currently specifically address best practices for referral to reproductive specialists nor utilization of ART techniques such as PGT-M.

The possibility of PGT-M should be discussed with reproductive-aged patients at the time of diagnosis to ensure that all gene-positive patients can balance treatment-related risks with family planning goals. Counseling should be unique to this population and consider potential long-term disease impact, treatment-related risks, and overall psychosocial health.¹⁰ Specific concerns regarding decision-making to pursue pregnancy in HCS carriers of reproductive age highlight the importance of detailed counseling regarding PGT-M.^11,12

More recently, professional organizations have acknowledged the advancements in ART with increased acceptance of its utilization. The American Society for Reproductive Medicine (ASRM) has recognized the lack of uniform guidelines and regulation of PGT-M in the United States requiring many physicians, genetic counselors, and PGT laboratories to develop internal policies. To help address gaps in care, ASRM recently published guidelines that provide a list of acceptable conditions for PGT-M utilization and suggest pretest and posttest counseling be completed by a genetic counselor.^13,14 According to the 2023 National Society of Genetic Counselor Professional Status Survey, out of 3,011 respondents among the 6,641 practicing genetic counselors in the United States, 6% specialize in ART/PGT-M.¹⁵ Furthermore, 85% offer appointments through telehealth to improve the accessibility of these genetic services.¹⁵ The current availability of genetic counselors does not reflect the growing need for these services, underscoring the necessity for increased education and training in this field. Genetic counselors providing ART/IVF services increased from 2% to 6% between 2022 and 2023, indicating the growth in expertise and demand within this emerging specialty.^15,16

Despite practice guidelines supporting its use and previous research showing that 78% of reproductive-age patients with HCS report concerns about cancer risk heritability in offspring, PGT-M remains one of the least implemented services in oncology.¹¹ With only 15% of oncologists regularly making referrals, a majority of patients seeking PGT-M consultations independently gather relevant information before their fertility appointment through sources other than a health care clinician and self-refer to receive desired services.^6,17,18 However, the most critical factor in the decision-making process for utilization of PGT-M, besides cost, was the amount and quality of the information provided by a trusted health care clinician^17,19 Improved clinician knowledge and confidence in referral processes for fertility services is necessary to meet the needs of patients with cancer of reproductive age.^4,20,21 However, no studies have explored the practice resources needed by oncology clinicians to increase awareness and utilization of PGT-M. Given the increasing percentage of genetic tests ordered by oncology clinicians and the unique counseling needs of this growing reproductive population, the objective of this study was to better understand the practices and resource needs among oncology clinicians to help facilitate timely discussions regarding PGT-M.^22,23 This information is critical for young patients with cancer and previvors to make timely decision-making for treatment and prevention without compromising their reproductive options.

Methods

In this qualitative study, semi-structured interviews were conducted with oncology clinicians providing direct clinical care and without formal education in genetics. Interview questions specifically applied to young adult patients with cancer and previvors of reproductive age, which was defined as individuals between the ages of 15–42 (upper age limit of PGT) at disclosure. The purpose of the study is to explore the experiences of oncology clinicians with PGT-M for HCS and identify desired resources that may address gaps in knowledge. This protocol was approved in October 2021 by the Brandeis’ Human Research Protection Program and was deemed exempt from further oversight.

Participants and recruitment

Participants were recruited using a snowball sampling technique to obtain oncology clinicians to participate in a virtual, one-on-one, semistructured interview. Recruitment flyers were posted to social media platforms with keywords targeted toward oncology clinicians and captured four participants (Supplemental Appendix S4). Two participants were referred by the senior authors’ professional contacts.

To be eligible, participants had to speak English, be at least 18 years of age, and be a board-certified, licensed, or registered health care professional with experience providing direct patient care to patients in a clinical oncology setting. Exclusion criteria included not having access to a phone and/or Zoom platform and health care clinicians with formal training in genetics.

An initial survey through Qualtrics collected participant demographic information and assessed eligibility (Supplemental Appendix S1). Eligible participants were contacted and provided with the study consent to review, sign, and return (Supplemental Appendix S2). Consented participants were scheduled for a virtual semi-structured interview based on previously related research (Supplemental Appendix S3).

Data collection

Zoom interviews were audio-recorded and completed between December 2021 and February 2022. Before recording began, the student researcher reviewed key points of the consent document and obtained verbal consent. Audio recordings of each interview were sent for transcription to Mulberry Studios Transcription Services. Transcribed interviews were stored on a secure Box account to protect participant privacy and only accessed by the student researcher and the principal investigator.

Data analysis

Using a constant comparative method (CCM), thematic analysis of the transcripts was conducted to identify clinicians’ experiences with PGT-M for HCS. Transcripts were uploaded into an ATLAS.ti 8 qualitative data analysis software program and coded by the primary researcher (D.S.) as they were received. Thematic analysis followed a CCM approach with three independent steps: open coding, axial coding, and selective coding. Conceptual codes were assigned to data as patterns emerged, codes were then grouped into cohesive themes of clinician experiences with PGT-M, and then themes were further defined by connecting independent categories to identify overarching thematic properties. The senior author (H.V.) then independently coded the transcripts to maintain the validity of the analysis, which demonstrated over 90% concordance. After six interviews, the data were reviewed with the consensus that saturation was reached with no additional themes or subthemes.

Results

Participant demographics

A total of six oncology clinicians participated in the study and corresponding demographics are shown in Table 1. See Table 1 for selected participant demographics; for maintaining participant privacy, age and institution of employment were excluded.

Table 1.

Participant Demographics

Title	Highest degree completed	Specialty/department	Years practicing	Practicing location	Participant ID
Medical Oncologist	Postdoctoral Fellowship	Oncology	15+	New York	(P06)
Medical Oncologist	Postdoctoral Fellowship	Oncology	6–10	New Jersey	(P05)
Medical Oncologist	Doctorate	Oncology	15+	New Jersey	(P04)
Doctorate of Nurse Practitioner (DNP)	Doctorate	Oncology, Women’s Health	15+	West Virginia	(P03)
Nurse Practitioner	Master of Nursing	Oncology, Palliative Care	15+	New Hampshire	(P02)
Nurse Navigator	Master of Nursing	Oncology	15+	Maryland	(P01)

Themes

Four themes emerged from the six completed interviews: Theme 1: Lack of clinician knowledge. Theme 2: Establishing professional roles and responsibilities Theme 3: Clinical setting and available resources influence clinician referral practices. Theme 4: Desired clinical resources. After completing the interview questions, participants were invited to give recommendations on resources needed to adequately address oncology patients' reproductive needs. Themes and illustrative quotes are presented in Table 2.

Table 2.

Quotes from Participants That Highlight Themes

Themes	Illustrative quotes
Lack of clinician knowledge	When asked to describe PGT-M to an oncology patient: “I would not explain very much about it. We would generally refer them out.” (P03, DNP) On changes in knowledge since entering the profession: “It hasn't changed.” (P04, Medical Oncologist) “I can't say that my level of knowledge about that, itself, has increased. But my knowledge of the importance of referral has certainly increased.” (P03, DNP) On available educational resources for PGT-M: “I don’t know of any.” (P05, Medical Oncologist) On professional expectations for discussing PGT-M: “I don't think there are any. It's individualized to each oncologist.” (P04, Medical Oncologist)
Establishing professional roles and responsibilities	On prioritization of treatment: “The focus is more on treatment, cure, and long-term, long-lasting eﬀects. A lot of that conversation probably falls to the wayside.” (P04, Medical Oncologist) “There are time pressures. And in the context of what a priority is in terms of health care decisions.” (P06, Medical Oncologist) Oncology providers overwhelmed with responsibilities: “Oncology is ﬂooding with so many new medicines and treatments. It’s hard to keep up with just those.” (P05, Medical Oncologist)
Clinical setting and resources influence referral practices	Resources in hospital systems dictate referral pathway: “It’s as simple as putting in a referral in our electronic order system. And that [fertility] team will then reach out to the patient within 24–36 hours.” (P06, Medical Oncologist) “I’ve worked at [good] facilities with access to genetic counselors. So, I’ve always had [and used] that resource.” (P02, DNP)
Desired Clinical Resources	A central resource with updated guidelines on referral process: “Providers should know it exists, know what resources are available to them, and what the referral strategy should be for a patient to refer them in a timely way.” (P06, Medical Oncologist) On the need for fertility specialists within the department: “Oh yes, absolutely.” (P05 Medical Oncologist) “Deﬁnitely there is a need” (P01, Nurse Navigator) “For most places [a specialized reproductive and fertility team] is a luxury. We would see it as a requirement. It doesn't get the same prioritization that it should” (P06, Medical Oncologist)

DNP, Doctorate of Nurse Practitioner; PGT-M, preimplantation genetic testing for monogenic disease.

Lack of clinician knowledge of PGT-M technology and referral practices

Most participants admitted that they had no formal educational training on PGT-M. Instead, participant knowledge was primarily acquired by working closely with the genetics department or maintaining a professional directory of genetic counselors. Participants’ knowledge of PGT-M is limited to that it exists and is available for HCS.

Participants were asked to describe PGT-M for a cancer syndrome to an oncology patient. Five of the six participants stated they would not attempt to provide any information on PGT-M because of a lack of knowledge and discomfort in addressing patient questions. All participants felt a referral to a specialist would best serve the evolving reproductive needs of patients with cancer. However, the participants did not typically initiate these referrals because of a lack of knowledge on whom to refer to and when. When referrals were initiated, it was most often to a prenatal or cancer genetic counselor.

We then explored participant awareness on practice resources available through current places of employment or professional societies that may help address gaps in knowledge. Five of the six participants admitted to being unaware of existing practice resources on PGT-M. One participant shared that the lack of available practice resources was the most significant barrier in initiating discussions of PGT-M.

Establishing professional roles and responsibilities.

Oncology clinicians prioritize treatment but feel responsible for facilitating PGT-M referral

Participants acknowledge that despite available practice recommendations for PGT-M, referrals to specialists are not routine for all reproductive-aged oncology patients because of a lack of clinician awareness and time constraints to remain updated on both treatment and related reproductive genetic services. Participants also discussed the challenges of prioritizing time-sensitive treatment discussions alongside fertility discussions. However, all six participants agreed that physicians should be responsible for identifying appropriate patients for referral as that is the patient’s expectation of their oncologist. The role of oncologists is central to overall patient care. However, their lack of time contributes to the need for referral to PGT-M specialists.

Clinical settings and resources influence referral practices

Participant responses on referral practices varied because of individual clinicians’ practices, institutional resources, and collaboration with external clinics. Some clinicians indicated the referral practice was to genetic counselors, but to which genetics specialty (prenatal versus cancer) varied greatly. Some clinicians indicated the referral practice was to an external reproductive endocrinology clinic. Only one participant practiced at an institution with strong collaboration with an internal reproductive department. This participant emphasized that access to internal oncofertility specialists should be prioritized.

Desired clinical resources

Participants were asked a series of questions about desired clinical resources, including the quality and quantity of information and where and how this information should be available.

Direct access to a health care clinician trained in oncofertility topics

Participants feel educational resources that raise general awareness among oncology clinicians would not be as impactful as a streamlined referral pathway to either internal or external specialists that can address the complex needs of this population. All participants agreed that there is a long-term need for a health care clinician trained specifically in oncofertility within oncology departments. One participant with experience making routine referrals emphasized that there is a positive long-term impact of providing fertility preservation and reproductive information to previvors. This same participant described that quality patient care requires young patients to be aware of their reproductive options regardless of intent to use them as a proactive measure. Collectively, participants recognize the intersection of oncology and reproductive medicine is expanding with the prevalence of younger patients being seen in oncology clinics, specifically for HCS. To meet the increased need for oncofertility services, participants recommended expanded training in oncofertility for oncology professionals. Potentially, genetic counseling, graduate nursing, and oncology training programs could offer formal oncofertility training as a post-graduate certificate program.

Discussion

Knowledge gaps and responsibility for referral

Overall, this study supports the findings of previous research, which indicate gaps in clinician knowledge and available clinical resources to facilitate patient referrals for PGT-M services in oncology patients of reproductive age.¹¹ In this study, clinicians disclosed that both young patients with cancer and previvors share concerns about navigating timely decisions related to PGT-M procedures, while concurrently pursuing cancer treatment and prophylactic measures. Clinicians also recognize the lack of universal practice recommendations and uniform referral guidelines that require patients to self-educate and advocate for reproductive services.^4,17,18 However, clinicians consider detailed discussions of PGT-M are not standard practice because of the lack of educational training, time constraints, and prioritization of treatment as cited in the literature. Therefore, participants desire a clinical resource that synthesizes practice recommendations and offers guidance on specific referral pathways for oncology patients to access reproductive services in a timely manner.

Logistical practice gaps: Need for accessible resources and streamlined referral pathway to specialists

In practice, oncologists are now tasked with individualizing cancer treatment plans to coincide with patient reproductive goals. These competing priorities have made timely discussion and support for oncofertility services difficult for both patients and clinicians alike. For example, new data suggest that temporarily interrupting treatment to attempt pregnancy does not increase the short-term risk of breast cancer in patients with hormone receptor-positive breast cancer, even in women undergoing ART.¹⁰ Referrals need to be made within a specific timeframe to ensure that patients can fulfill family planning goals while also accessing care focused on cancer treatment and survivorship.^4,24–26 These studies underscore the need for detailed counseling regarding fertility preservation and reproductive options at various points on the oncology continuum from predisposition to treatment. To that end, patients are aware that cancer prevention/treatment and pregnancy are not mutually exclusive.

Patients feel most confident in pursuing reproductive services following shared and informed decision-making with trusted clinicians and report a higher level of satisfaction in overall experience when referral systems exist that can be endorsed by their treating physicians.^17,27 This suggests that the clinician’s confidence in referral practices can help inform complex patient decisions, help alleviate emotional distress, and improve desired patient outcomes with regard to family planning and cancer treatment.^17,27 Therefore, this study indicated that oncology clinicians need an on-demand, accessible resource to synthesize current professional practice recommendations surrounding PGT-M, including information on available local fertility specialists for referrals. Ideally, this resource should be updated regularly with integrated practice tools that allow oncologists to fulfill their responsibility of coordinating fertility services for oncology patients as supported by previous literature.^24,28 Well-established referral systems allow reproductive specialists to contact patients quickly for timely decision-making and provide a foundation for ongoing psychosocial support.²⁷

Another novel finding of this study was the long-term need for the integration of fertility specialists into clinical settings to ensure that reproductive options are being discussed with patients at various points along the patient journey. Many clinicians refer patients to external clinics for services, whereas acknowledging that this practice reduces opportunities for continuity of care. They recognize a working collaboration between a patient’s treating oncology clinician and a reproductive specialist is essential for patients to feel supported in navigating PGT-M without delaying cancer treatment. This finding is supported by previous studies that report patient satisfaction and confidence in decision-making is highest when counseling is completed by a fertility specialist and oncologist rather than an oncologist alone.^29,30 This implies that having access to a fertility care navigator or potentially genetic counselor to adequately discuss PGT-M can directly influence patient awareness and utilization of reproductive technology.²⁷ Therefore, expanded training in oncofertility for oncology practitioners can help integrate these specialists at various points in the cancer continuum from previvorship to survivorship.

Study limitations and future research recommendations

This study has several limitations, many of which could be attributed to its qualitative nature. Limitations include sample size, recruitment bias, and limited diversity in the participant pool. With a sample size of six, findings are not generalizable to all oncology clinicians.

There was a selection bias of participants who had existing professional contact with genetic clinicians or within genetic departments that may have influenced their knowledge or experiences with PGT-M. In future studies, it would be beneficial to recruit a more diverse sample of participants using selection techniques with less inherent bias to ensure a more balanced perception of the PGT-M practices in oncology.

Although study participants were diverse in terms of oncology specialties, most participants had 15+ years of clinical experience and practiced within the Northeast. Additional research is necessary in a larger representative cohort to better understand PGT-M knowledge and practice referrals across the profession, especially as it relates to accessible resources and streamlined referrals. Longer-term studies could potentially evaluate referral practices and patient utilization of PGT-M after streamlined referral is established and/or inclusion of an oncofertility specialist in an oncology team.

Conclusion

Oncology clinicians within this cohort recognize that a lack of clinician knowledge and an established referral system to appropriate specialists compromise the utilization of PGT-M. The study findings indicate the need for a multidisciplinary approach to oncofertility care, which can be established through unified guidelines on referral practices and collaborative efforts between oncology and reproductive clinicians Refined practice recommendations and centralized resources that can be readily incorporated into an existing treatment or surveillance plan to ensure timely referrals. Successful integration of these accessible resources at various points in the cancer continuum will empower this unique population to make informed, timely, decisions regarding PGT-M.

Footnotes

Authors’ Contributions

D.S. contributed to the design, implementation of the research, results analysis, and writing of the article. J.G. contributed to the design, implementation of the research, and writing of the article. K.M. contributed to the design and writing of the article. H.V. contributed to the design, oversight of research implementation, results analysis, and writing of the article.

Author Disclosure Statement

The authors have no conflicts of interest to declare.

Funding Information

No funding was received for this article.

Supplementary Material

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Supplementary Material

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