Prenatal Genetic Counseling Sessions Research Articles

Prenatal Screening of Chromosomal Anomalies Using Genome-Wide or Target Cell-Free DNA: Preferences and Satisfaction of Pregnant Women.

Background/Objectives: Cell-free DNA (cfDNA) is a non-invasive prenatal test used to screen for common trisomies (target cfDNA) that can be expanded to assess all autosomal chromosomes (genome-wide cfDNA). As cfDNA testing gains popularity, it is crucial to examine the factors influencing the decision-making process of pregnant individuals when choosing between these two approaches. Methods: In this prospective cohort study, 190 individuals undergoing cfDNA testing for aneuploidy screening, according to the current screening protocol, were allowed to make their own choice between target and genome-wide cfDNA testing. They were asked to complete a first survey at 11-13 weeks, designed to explore their characteristics, preferences, and satisfaction with the prenatal genetic counseling session, as well as a Decisional Conflict Scale. A postnatal survey was administered three months after delivery, including the Decisional Regret Scale and two open questions. Results: 84% of participants opted for genome-wide cfDNA. However, 17% found the decision challenging, and 14% felt that the results might increase anxiety. No significant differences in participant characteristics were found when comparing decisions between genome-wide and target cfDNA. However, significant differences were observed regarding ethnicity (p = <0.001), educational level (p = 0.029), previous cfDNA experience (p = 0.004), and having sufficient information when comparing termination options (p = 0.002). After delivery, only 4% would have changed their decision. Conclusions: Individuals, regardless of their characteristics, prefer genome-wide cfDNA; however, the complexity of the results necessitates enhanced genetic education for prenatal care clinicians.

Applying the practice-based competencies to evaluate and characterize the contracting process within genetic counseling sessions.

Contracting is a skill used by genetic counselors (GCs) to establish a shared vision for the session. Ensuring that patients and GCs are aligned on expectations for the encounter allows GCs to meet patient needs and support patient autonomy. Although contracting is described in the practice-based competencies (PBCs), the process has not been systematically observed in practice. We sought to further elucidate the skills used for contracting within genetic counseling sessions through directed content analysis of transcripts from 148 simulated prenatal and cancer genetic counseling sessions. An a priori codebook and rating scale were developed based on four contracting sample skills described in the PBCs: (a) describing the genetic counseling process, (b) eliciting client concerns, (c) applying client concerns to a session agenda, (d) modifying the agenda in response to emerging concerns. The rating scale described the quality of each skill on a 4-point scale of "absent," "minimal," "adequate," and "excellent." The codebook and rating scale were pilot tested with 40% of transcripts (n = 60). Three authors independently coded and rated the final 60% of transcripts (n = 88), resolving discrepancies via a consensus process. We found that the four PBC skills were present in most sessions (88%-98%), and on average, GCs received "adequate" scores on all four skills. We also identified three additional components of contracting not described in the PBCs: assessing whether client concerns were met, inviting to interrupt, and providing opportunity for partner concerns. This study represents the first attempt to evaluate GC performance of a PBC during a genetic counseling session. Our findings demonstrate that the PBC sample contracting skills reflect practice and suggest that they can be used in assessment of the genetic counseling contracting process. This type of analysis could be adapted in the future to provide support for other standards of practice in the genetic counseling field.

Mode of delivery preference in prenatal genetic counseling between English- and Spanish-speaking patients at two US medical institutions.

Although Hispanic individuals are at an increased risk for various genetic conditions, they have lower uptake of genetic counseling and genetic testing. Virtual appointments have many advantages that may help Spanish-speaking patients access genetic services more readily. Despite these benefits, there are limitations that may make them less attractive options for these individuals. This study aimed to determine if satisfaction with genetic counseling or mode of delivery preference differs between English- and Spanish-speaking individuals who have had a virtual prenatal genetic counseling session. Participants were recruited from prenatal genetic counseling clinics at Indiana University Health and Eskenazi Hospital. A REDCap survey was sent to all eligible participants. Survey questions included mode of delivery preference for future genetic counseling sessions (virtual versus in-person), the validated Genetic Counseling Satisfaction Scale, and questions inquiring about the importance of various factors affecting mode of delivery preference. Spanish-speaking individuals preferred future visits to be in-person, while English-speaking individuals preferred future visits to be virtual (Fisher's exact p = 0.003). Several factors were associated with these preferences, including waiting time, ability to leave/take off work for an appointment, length of session, childcare arrangements, and people attending the appointment (all p < 0.05). Both language groups reported similar mean satisfaction with the genetic counseling provided during their previous virtual appointments (p = 0.51). This study found that certain aspects of virtual genetic counseling appointments make them less appealing to Spanish-speaking individuals. Making virtual genetic counseling appointments more appealing while continuing to offer in-person appointments may help Spanish-speaking individuals receive necessary genetics services. Continued research into disparities and barriers to telemedicine for Spanish-speaking patients is necessary to increase access to this service delivery model for genetic counseling.

Feasibility, face validity, and sensitivity of a web-based simulation tool for assessing genetic counseling communication.

We conducted a test of concept study to explore feasibility, face validity, and sensitivity of an interactive web-based video tool designed to assess communication practices of genetic counselors in response to standardized video prompts. A convenience sample of genetic counselors was recruited from the National Society of Genetic Counselors to respond verbally to a set of brief standardized video prompts from a virtual client in a prenatal genetic counseling session and a cancer genetic counseling session, embedded in an interactive online platform. Participant verbal responses to prompts were captured through a secure voicemail service. A total of 89 participants attempted to use the online tool and 51 (57%) successfully completed the simulation and produced an audio record of their responses. The average length of recordings was 12.2min. Face validity was high; participants rated the virtual client as similar to clients seen in practice (75% agree; 12% strongly agree, 7% neutral, 6% disagree) and rated their own responses to the virtual client prompts as similar to those in practice (63% agree; 19% strongly agree; 12% neutral, 6% disagree). Feasibility was assessed by ratings of ease of use (57% agreed, 24% strongly agreed, 17% were neutral, and none disagreed). Content checklists showed that the tool was sensitive enough to detect variation in frequency of certain topics discussed by participants that was similar to previous descriptive studies. The test of concept demonstrated feasibility, face validity, and sensitivity of this communication tool with possible applications in research, training, and program evaluation.

Exploring experiences and expectations of prenatal health care and genetic counseling/testing in immigrant Latinas

As the Latino population of the United States continues to increase, the specific needs of Latinos in genetic counseling continue to be unmet. Using culturally tailored genetic counseling responsive to the needs of the patient can assist in building rapport in genetic counseling sessions. We aimed to investigate the relationship between acculturation, prenatal care, genetic testing experiences, and expectations for prenatal care in an immigrant Latino population. A total of 20 Spanish-speaking, pregnant Latinas from various Latin American countries were interviewed after completing a prenatal genetic counseling session. The semi-structured phone interview included questions about the participants' experiences with genetic counseling/testing, prenatal health care in their home country, their current prenatal care in the United States, and information they felt to be important to know during their pregnancy. Although this study showed no statistically significant associations between acculturation, prenatal care, and genetic counseling/testing experiences, six significant content domains were identified as relevant to the participants. Overall, we found that immigrant Latinas desire to know prenatal risk information to help them prepare, relieve guilt, and help make screening/testing/family planning decisions. These Latinas reported the genetic counselor provided confidence, a sense of autonomy, and empowerment, for them to make their own decisions regarding prenatal screening/testing. The participants also spoke about stressors unique to the immigrant population, most notably being away from their older children and other family members. Identifying relevant factors about the lived experience of this population can help genetic counselors better address possible needs, feelings of guilt, and/or isolation and identifying women who could benefit from group-based prenatal care, support groups, or referrals to social work.

Patient decision-making and the role of the prenatal genetic counselor: An exploratory study.

Despite much theory about how genetic counseling facilitates prenatal decision-making, there are limited data regarding patients' perceptions of the process and the role of the genetic counselor (GC). Our aim in this study was to explore patients' perceptions of their prenatal genetic counseling session, with a focus on their relationship with their GC and how factors inside and outside the session influenced their decision-making about amniocentesis. We performed a qualitative study with patients who had seen a GC after maternal serum screening revealed an increased risk for aneuploidy. Semistructured interviews were transcribed verbatim, and analyzed using a constant comparative method. To complement and triangulate with these data, we used a secondary quantitative measure-the 6-item Satisfaction With Decision-making (SWD) scale, and questionnaires completed by participants' GCs. Eleven patients participated and four predominant themes emerged from our data: (1) being unprepared; (2) recognizing responsibility for decision-making; (3) the burden of responsibility; and (4) the impact of support through affirmation. Despite the underlying tension within these themes, patients reported high satisfaction with their decisions (SWD mean score=28.5/30, range: 26-30). Patients perceived their GCs to be nonbiased yet supportive in the decision-making process. Patients described feeling affirmed, but not swayed in their decision.

Managing Couple Conflict During Prenatal Counseling Sessions: An Investigation of Genetic Counselor Experiences and Perceptions.

Research shows couple conflict occurring during prenatal genetic counseling sessions may be challenging for some genetic counselors. Yet, no study has explored couple conflict in depth. The current study investigated genetic counselors' experiences and perceptions of the nature and context of couple conflict in prenatal sessions and counselor conflict management strategies. Sixteen prenatal genetic counselors recruited through the National Society of Genetic Counselors participated in semi-structured phone interviews asking about how they recognize couple conflict; topics that trigger conflict and when it occurs; individual, cultural, and situational factors associated with conflict; conflict management strategies; and specific examples from their practice. Inductive and cross-case comparison methods revealed a number of themes. Genetic counselors recognize couple conflict through non-verbal and verbal cues, and conflict can occur at any time, particularly during decision-making about testing and test results and during results review of an affected pregnancy. Factors associated with conflict include cultural customs, age, emotional state, religious beliefs, and being forced to attend counseling. Participants identified 23 conflict management strategies classified into five themes: facilitate decision-making, encourage couple expression, act within one's scope of practice, provide psychosocial support, and support the identified patient. Counselors emphasized that their strategies are couple dependent. Patients may benefit from genetic counselors assessing couple conflict and intervening when it impedes genetic counseling goals. Clinical examples from this study may contribute to informing genetic counselor practice, program curricula, and continuing education workshops.

Attitudes Toward and Uptake of Prenatal Genetic Screening and Testing in Twin Pregnancies

The rate of twinning is rising and since the introduction of non-invasive prenatal testing, interest in and uptake of genetic screening and testing in twin pregnancies has not been investigated. This study aimed to explore the attitudes toward and uptake of current prenatal genetic screening and diagnostic testing options for fetal aneuploidy in twin pregnancies. Women being seen for genetic counseling with twin gestations were recruited for participation in a descriptive study with questionnaire (n = 42) and semi-structured phone interview (n = 15). Women were significantly more in favor of screening than diagnostic testing (p = 0.049). Sixty-nine (n = 25) percent elected screening, while one participant had a diagnostic procedure. Women were interested in screening for preparation or reassurance despite having concerns about accuracy and uncertainty. Most women (86%) felt they would make the same decision in a singleton pregnancy. Despite this, 48% cited twin pregnancy as influential to some degree. Information learned from providers, past experiences, and family and friends were also cited as influencing and anchoring factors, suggesting that tailoring prenatal genetic counseling sessions for twins might parallel that of singletons. No significant differences between natural and assisted conception patients were found. Although it did not alter patient decisions, genetic counseling was used as a platform to raise concerns and gather information.

Spiritual Exploration in the Prenatal Genetic Counseling Session

Religion and spirituality (R/S) are important components of many individuals' lives, and spirituality is often employed by women coping with pregnancy complications. To characterize how prenatal genetic counselors might address spiritual issues with patients, 283 English and Spanish speaking women receiving prenatal genetic counseling in Houston, Texas were surveyed post-counseling using both the Brief RCope and questions regarding interest in spiritual exploration. Genetic counselors were concurrently surveyed to identify religious/spiritual language used within sessions and perceived importance of R/S. Genetic counselors were significantly more likely to identify R/S as important to a patient when patients used religious/spiritual language (p<0.001). Conversely, when no religious/spiritual terms were present, the counselor felt uncertain about the importance of R/S 63% of the time. However, 67% of patients reported that they felt comfortable sharing their faith as it relates to their pregnancy, and 93% reported using positive religious coping. Less than 25% reported a desire for overt religious actions such as prayer or scripture exploration. Therefore, most patients' desires for spiritual exploration center in the decision making and coping processes that are in line with the genetic counseling scope of practice. Thus, counselors should feel empowered to incorporate spiritual exploration into their patient conversations.

Perceptions of Latinas on the Traditional Prenatal Genetic Counseling Model.

The traditional genetic counseling model encompasses an individualized counseling session that includes the presentation of information about genes, chromosomes, personalized risk assessment, and genetic testing and screening options. Counselors are challenged to balance the provision of enough basic genetic information to ensure clients' understanding of the genetic condition in question with a personalized discussion of what this information means to them. This study explored the perceptions Latinas have about prenatal genetic counseling sessions and aimed to determine if they had preferences about the delivery of care. Data were collected through focus groups and one-on-one, semi-structured interviews of 25 Spanish speaking Latinas who received genetic counseling during their current pregnancy. We implemented grounded theory to evaluate participant responses, and were able to identify common emergent themes. Several themes were identified including an overall satisfaction with their prenatal genetic counseling appointment, desire for a healthy baby, peace of mind following their appointment, lack of desire for invasive testing, and faith in God. Several participants stated a preference for group genetic counseling over the traditional individual genetic counseling model. Our data indicate that Latinas value the information presented at prenatal genetic counseling appointments despite disinterest in pursuing genetic testing or screening and suggest that group prenatal genetic counseling may be an effective alternative to the traditional genetic counseling model in the Latina population.

Laughter as Medical Providers' Resource: Negotiating Informed Choice in Prenatal Genetic Counseling

This article aims to challenge the perception that in medical encounters laughter is an interactional resource primarily employed by patients. Drawing on 34 video-recorded prenatal genetic counseling (PGC) sessions collected in a Hong Kong hospital, and combining quantitative and qualitative methods, we illustrate that laughter is in fact frequently employed by the medical providers in our data. The particular focus of the article is on the ways in which laughter initiated by the medical providers assists interlocutors in negotiating informed choice, a crucial aspect of PGC sessions. Findings indicate that laughter initiated by the medical providers performs at least two PGC-specific functions: It assists the medical providers in “laughing off” and overcoming patients' resistance, and it helps them in dealing with patients' direct questions. Laughter is thus an important resource for the medical providers in pursuing the institutional goals of the interaction, namely negotiating informed choice with their patients.

Genetic Counselors’ Experiences with Adolescent Patients in Prenatal Genetic Counseling

Adolescents comprise a portion of women who present to genetic counselors prenatally. In this study, prenatal genetic counselors (N=128) were surveyed regarding their perceptions of genetic counseling sessions for adolescent (ages 13-19) and adult (ages 20-34) patients. Counselors perceived differences in methods used to communicate risk information for adolescent versus adult populations. Respondents reported that it is more difficult for adolescents to understand prognostic information than adults. They also noted differences between adult and adolescent populations with respect to the people who typically accompany the patient to the session. Respondents stated that adolescents were accompanied by a parent, friend, or sibling, which differed from adults who reportedly were accompanied by a significant other, father of the pregnancy, or by no one. These findings suggest it is important to recognize that adolescent patients are in a unique stage of their development which may influence a prenatal genetic counseling session.

Patient participation within a globalised patient population

Data from multicultural contexts add more complexity to many findings regarding healthcare practices that have been reported in the literature. For example, patient participation has been reported to contribute to the enhancement of healthcare results (e.g. Candlin, 2006; Thompson, 2008). However, patient participation may be problematic when participants in the medical encounter face sociocultural and linguistic barriers. In this paper we focus on interactional difficulties that non-native speakers of English encounter in prenatal genetic counseling sessions. These difficulties, we argue, may place limitations on the extent of patient participation, when patient participation is narrowly defined in terms of verbal contributions. The data for the study come from a prenatal genetic counseling clinic in Hong Kong, and the participants of the interactions originate from various countries in the Asia region. Using a conversation analytic approach, we examine interactional difficulties in an attempt to capture the specific challenges faced by healthcare providers and patients in an increasingly diverse healthcare context. We also argue for an ethnographic perspective to examine patient participation in the multilingual context and to highlight dimensions of second language use and cultural diversities as observable evidence of patient participation.

“Testing Times, Challenging Choices”: An Australian Study of Prenatal Genetic Counseling

In many countries pregnant women deemed to be at increased risk for fetal anomaly following a screening test may attend a genetic counseling session to receive information and support in decision-making about subsequent diagnostic testing. This paper presents findings from an Australian study that explored 21 prenatal genetic counseling sessions conducted by five different genetic counselors. All were attended by pregnant women who had received an increased risk result from a maternal serum screening (MSS) test and who were offered a diagnostic test. Qualitative methods were used to analyze the content and structure of sessions and explore the counseling interactions. Findings from this cohort demonstrate that, within these prenatal genetic counseling sessions, counselor dialogue predominated. Overall the sessions were characterized by: a) an emphasis on information-giving b) a lack of dialogue about relevant sensitive topics such as disability and abortion. Arguably, this resulted in missed opportunities for client deliberation and informed decision-making. These findings have implications for the training and practice of genetic counselors and all healthcare professionals who communicate with women about prenatal testing.

Genetic Counselors' Experiences with Paternal Involvement in Prenatal Genetic Counseling Sessions: An Exploratory Investigation.

Limited research exists concerning male partners' participation in prenatal genetic counseling (R. Kenen, A. C. M. Smith, C. Watkins, & C. Zuber-Pitore, J. Genet Corns 9, 33-45, 2000). To further understand paternal participation, we interviewed 17 experienced prenatal genetic counselors to assess their perspectives on this issue. We investigated 6 research questions: 1) How do genetic counselors define paternal involvement, 2) how do they determine and address problematic involvement, 3) what factors influence involvement, 4) was paternal involvement addressed in training, 5) how might training be improved, and 6) how do participant strategies for addressing involvement compare to those of marriage/family therapists? Qualitative analysis revealed that 1) participants regard paternal involvement asimportant; 2) most address problematic involvement with strategies similar to those of marital/family therapists; 3) influential factors include male partner's characteristics, the couple's relationship (including culturalpractices), and pregnancy factors; and 4) participants received little or notraining on paternal involvement and recommended didactic and experientialactivities. Implications and research recommendations are presented.

"People Say It's a Little Uncomfortable": Prenatal Genetic Counselors' Use of Constructed Dialogue to Reference Procedural Pain.

Prenatal genetic counseling involves an exchange of information between counselors and clients, including verbal descriptions of the potential pain of invasive prenatal diagnosis procedures such as amniocentesis. This paper describes the use of one linguistic feature in one context. It considers how two counselors describe procedural pain in 17 prenatal genetic counseling sessions, audiotaped as part of a larger data-driven study using sociolinguistic methodologies to characterize the discourse of genetic counseling. Analysis reveals that "constructed dialogue," or reporting something another person said, is a strategy used frequently by the counselors for describing procedural pain. Examination of the content and form of the constructed dialogue uncovered three recurring patterns that relate to its functions in the sessions: (1) inclusion of colloquial vocabulary; (2) references to common experiences through similes; and (3) explicit downplaying of pain. This analysis suggests that the naturally occurring phenomenon of quoting the words of others can be used in genetic counseling to impart information while simultaneously reassuring the client and creating counselor-client rapport. The complex relationship between the use of constructed dialogue and the enactment of genetic counseling principles through talk is also discussed.

Does indirect speech promote nondirective genetic counseling? Results of a sociolinguistic investigation.

To date, research examining adherence to genetic counseling principles has focused on specific counseling activities such as the giving or withholding of information and responding to client requests for advice. We audiotaped 43 prenatal genetic counseling sessions and used data-driven, qualitative, sociolinguistic methodologies to investigate how language choices facilitate or hinder the counseling process. Transcripts of each session were prepared for sociolinguistic analysis of the emergent discourse that included studying conversational style, speaker-listener symmetry, directness, and other interactional patterns. Analysis of our data demonstrates that: 1) indirect speech, marked by the use of hints, hedges, and other politeness strategies, facilitates rapport and mitigates the tension between a client-centered relationship and a counselor-driven agenda; 2) direct speech, or speaking literally, is an effective strategy for providing information and education; and 3) confusion exists between the use of indirect speech and the intent to provide nondirective counseling, especially when facilitating client decision-making. Indirect responses to client questions, such as those that include the phrases "some people" or "most people," helped to maintain counselor neutrality; however, this well-intended indirectness, used to preserve client autonomy, may have obstructed direct explorations of client needs. We argue that the genetic counseling process requires increased flexibility in the use of direct and indirect speech and provide new insights into how "talk" affects the work of genetic counselors.

A survey of genetic counselors' use of informed consent documents for prenatal genetic counseling sessions.

Thirty six members of the Prenatal Diagnosis Special Interest Group of the National Society of Genetic Counselors were interviewed about their use of informed consent documents for the genetic counseling component of their prenatal genetic counseling sessions and their perceptions of the utility and feasibility of such documents. Major findings include (1) None of the genetic counselors currently used a consent document describing the genetic counseling component of the session itself; (2) Only three participants stated that they had ever used an informed consent document for this component of the session; (3) They disagreed about the importance and usefulness of such a document; (4) There was variability in their reported likelihood of using a document if one were available; (5) There was a fair amount of agreement about the types of information to include on an informed consent document for genetic counseling; over half of the sample endorsed 8 of 10 topics; and (6) Participants identified 10 obstacles to using such a document. Recommendations for genetic counseling practice, policy, and research are given.

Strengthening Genetic Services in Primary Care for Asian Americans and Pacific Islanders

The Association of Asian Pacific Community Health Organizations (AAPCHO) is a national membership organization of community health centers (CHCs) that serve medically underserved Asian Americans and Pacific Islanders (AAPIs) with limited English-speaking proficiency and low income. Objectives: In 1995, AAPCHO was funded for a 3-year national genetics training project to improve genetics training among primary care providers at CHCs and strengthen linkages with tertiary genetic centers (TGCs). Three model linkages between CHCs and TGCs were documented on the coordination of genetic services for medically underserved AAPIs. Methods: Guidelines were developed for three CHCs to document their genetic programs and linkages with TGCs. In addition, one clinic conducted a mail survey to assess understanding of prenatal genetic counseling sessions by patients that visited the clinic during the past 2 years. Results: Model linkages between CHCs and TGCs to improve cultural and linguistic accessibility for patients include formal coordination between the CHCs and TGCs for the delivery of genetic services and the provision of varying levels of genetic services at the CHC. From the patient survey, there was a 59% response rate among 70 surveys mailed to former patients. The survey results showed that while a majority of patients understood and recalled key genetic concepts, one-fifth of patients experienced difficulty understanding their genetic counseling sessions. Conclusion: Based on model linkages between CHCs and TGCs and the patient satisfaction survey results, the following strategies are recommended to improve accessibility of genetic services for medically underserved AAPIs: (1) genetics education should be developed for all levels of health center staff; (2) counseling should be culturally sensitive and focus on key issues that must be conveyed for appropriate informed consent; (3) genetics education should employ the use of translated audiovisual aids and brochures to improve understanding; (4) genetic services should be coordinated between CHCs and TGCs to provide culturally and linguistically competent care for medically underserved AAPIs, and (5) financial mechanisms should be available to support genetic testing of patients and their families with little or no coverage for genetic services.

Practice variability in prenatal genetic counseling

This study demonstrated that the content of prenatal genetic counseling sessions varied from counselor to counselor and from center to center. The study was designed to examine which specific issues were included by genetic counselors in prenatal genetic counseling sessions, and to determine which factors led genetic counselors to include or exclude this information from such sessions. Data were collected by randomly surveying 200 full, master degree members of the National Society of Genetic Counselors (NSGC). Respondents provided information by deciding which of 45 specific issues they would include in a standard prenatal genetic counseling session, and which one factor from a bank of 11 factors most accurately described the reason for this decision. The results indicated that the issues included/excluded from sessions varied widely among genetic counselors. The results also indicated that Patient Education/Informed Decision Making (34.5%) played the largest role in decision making overall, with Standard at Center/Departmental Policy (17.6%), Personal Experience/Preference (12.4%), and Applicability (10.9%) serving as the next three most important reasons for including or excluding issues from prenatal genetic counseling sessions.