"We are just not sure what that means or if it's relevant": Uncertainty when gathering family history information in South African prenatal genetic counseling consultations.

Uncertainty impacts the process of health communication. The management and tolerance of uncertainty during healthcare discussions have gained renewed focus due to the growing challenge of obtaining and delivering complex health information, and the offer of health services in diverse contexts. Prenatal genetic counseling (GC) provides education, support and testing options for patients and couples facing a genetic or congenital diagnosis or risk during pregnancy. Gathering detailed and accurate family history information is essential to determine a patient's genetic risk. In South Africa, contextual factors such as patient literacy, language diversity, limited written patient health records, and a lack of familiarity with GC services may increase the potential for misunderstandings during GC consultations. This study uses a qualitative sociolinguistic approach to analyse 9 video-recorded South African prenatal GC consultations to understand the impact of uncertainty on the process of gathering family history information. The findings reveal uncertainty is introduced in different ways during family history taking. This includes when patients have no knowledge about their family history; when they have some knowledge but the details are unclear; or when patients have knowledge but the details are confusing. Uncertainty can lead to interactional trouble in the form of knowledge asymmetries, interrogative questioning, reversals in epistemic authority, and the potential for mistrust. Suggestions are made for how genetic specialists can manage uncertainty in GC family history taking. These include recognizing contextual sources of uncertainty, understanding how patients may respond to uncertainty and being aware of personal responses to moments of discomfort. Specific communication training recommendations and video-based sociolinguistic methods to enhance reflection and communication practice are highlighted. These approaches may enhance the effectiveness of GC communication and strengthen patient-specialist relationships, especially in diverse settings.

A balancing act: Non-directive communication, risk perceptions, and meeting patient needs in genetic counseling: A South African case study.

Genetic counseling (GC) traditionally follows a non-directive counseling approach. Although a cornerstone of GC teaching and theory, there has been debate on whether GC is, can be, or should be a patient-led service due to challenges in practice, as well as the advancement and complexity of genetic testing. Personal risk perceptions and patient expectations within particular contexts may further affect how genetic counselors discuss risk information, even while attempting to remain neutral. Less is known about the process of GC communication in non-Western settings. This paper presents empirical evidence from a South African prenatal GC consultation where tensions become apparent due to differing risk perceptions and expectations between a genetic counselor and a patient, which ultimately impacts non-directive communication practice. The case study forms part of a larger qualitative study focusing on risk and uncertainty communication within GC consultations in Cape Town, South Africa. A blended sociolinguistic approach drawing on principles of conversation analysis (CA) and theme-orientated discourse analysis (TODA) provides evidence of the complexity of imparting risk information and challenging patients to reflect on their decision-making, whilst refraining from sharing personal risk perceptions during everyday practice. The case study demonstrates how a genetic counselor may become implicitly and explicitly directive in their communication approach within the same consult which may reveal their personal risk perceptions on the matter discussed. In addition, the case study reveals how a genetic counselor may grapple with the dilemma of honoring the non-directive guidelines of the profession, whilst simultaneously supporting a patient who requests advice. The ongoing debate on non-directive counseling, decision-making, and patient care in GC is important for the reflection and development of the profession to understand how to assist and support patients facing sensitive and difficult decisions, in a meaningful, and contextually-tailored manner.

International genetic counseling: What do genetic counselors actually do?

We conducted an exploratory survey of genetic counselors internationally to assess similarities and differences in reported practice activities. Between November 2018 and January 2020 we conducted a mass emailing to an estimated 5600 genetic counselors in different countries and regions. We obtained 189 useable responses representing 22 countries, which are included in an aggregate manner. Data from countries with 10 or more responses, comprising 82% of the total (N = 156), are the primary focus of this report: Australia (13), Canada (26), USA (59), UK (17), France (12), Japan (19) and India (10). Twenty activities were identified as common (≥74%) across these countries, encompassing most subcategories of genetic counseling activity. Activities with most frequent endorsement include: reviewing referrals and medical records and identifying genetic testing options as part of case preparation; taking family and medical histories; performing and sharing risk assessment; and educating clients about basic genetic information, test options, outcomes and implications, including management recommendations on the basis of the test results. Genetic counselors also consistently establish rapport, tailor the educational process, facilitate informed decision making and recognize factors that may impact the counseling interaction. The least endorsed activities were in the Medical History category. Notable differences between countries were observed in the endorsement of 33 activities, primarily in the Contracting and Establishing Rapport, Family History, Medical History, Assessing Patients Psychosocially and Providing Psychosocial Support categories. Generalizations about international practice patterns are limited by the low response rate. However, this study is, to our knowledge, the first to systematically compare the clinical practice and specific activities of genetic counselors working in different countries.

The decision-making process of pregnant individuals offered termination of pregnancy for serious congenital abnormalities.

OBJECTIVES: This study aimed to explore the decision-making process of patients with pregnancies affected by serious congenital abnormalities. METHODS: The study design was an exploratory qualitative study. The sample for this study was pregnant individuals who had a prenatal diagnosis of a serious congenital abnormality and were offered termination of pregnancy. Semi-structured face-to-face interviews with closed and open-ended questions, recorded and transcribed verbatim, were used to collect the data; this was then analyzed using a thematic data analysis approach. RESULTS: Five topics were developed: "Health care services", "Home", "Being a mother", "Finding meaning", and "The aftermath". The first four topics describe the decision-making process where the participants filtered through multiple factors to reach their final decision. Although the participants consulted with their families, partners, and community, they made the final decision themselves. The final topics describes activities which were necessary for closure and coping. CONCLUSION: This study has provided valuable insight into the decision-making process, which can be used to improve services offered to patients. PRACTICE IMPLICATIONS: Information should be communicated clearly with follow-up appointments to discuss further. Healthcare professional should show empathy and assure the participants that their decision is supported.

Survival rates and outcomes of pregnancies with prenatal diagnosis of trisomy 18: A 16-year experience from a public hospital in South Africa.

OBJECTIVE: Many studies, largely from high-income countries (HIC), have reported outcomes in babies with trisomy 18 (T18), with a paucity of data from Africa. Knowledge of outcomes is important in counselling women prenatally diagnosed with T18. We aimed to review all prenatally diagnosed cases of T18 between January 2006 and December 2021. METHOD: Demographic data, diagnosis, gestation and outcome data were obtained from the Astraia® database and patient files. RESULTS: We included 88 pregnant women of whom 46 terminated their pregnancies (30 beyond 24 weeks' gestation). Three underwent foeticides, one had a caesarean section for maternal obstetric reasons and 26 underwent inductions of labour without foetal monitoring. Four neonates were live born but none lived >8 h. In those who continued their pregnancies, the mean gestation at delivery was 34.8 weeks, 14 (33%) were live births and only 5 survived for >24 h with none surviving to 1 year of life. CONCLUSION: In our cohort, infants with T18 had lower live birth rates and shorter survival than in the current literature from HIC. This may be due to the implementation of non-aggressive intrapartum care and comfort care for the neonates. This has implications for counselling in our setting.

Genetic counseling experiences at the University of Cape Town during COVID-19.

Soon after the first COVID-19 case was reported in December 2019 in Wuhan, China, South Africa announced a national lockdown in an attempt to curb the spread of the disease. Under national lockdown, businesses were closed, learning institutions moved to emergency remote teaching (ERT), and hospitals reduced their patient loads. De-escalation of clinical services at Groote Schuur and Red Cross War Memorial Children's Hospitals affected Genetic Counseling Services and resulted in a decrease in in-person and an increase in telecounseling sessions. ERT, offered by the University of Cape Town, affected the teaching of Genetic Counseling students, and other methods of training had to be found to compensate for the lack of patient contact. In this paper, we present our Genetic Counseling team's experiences of learning and clinical services during the COVID-19 pandemic in South Africa. The team met online as a group in November 2020 to discuss their experiences. The discussion was recorded and transcribed, and topics that arose during the discussion were identified. The pandemic and the accompanying lock down, which forced trainees to move back home, resulted in great uncertainty. The trainees found ERT on an online platform, including simulated cases, very helpful, but they lost the confidence to work with real patients. Telecounseling became the predominant form of service delivery and was experienced as positive when video sessions were possible. The telephone service for advanced maternal age counseling was problematic due to unreliable networks. The biggest loss for the GCs was the feeling of disconnection from peers, supervisors, and patients. The experiences highlighted positive and negative aspects as well as specific challenges faced in South Africa. Lessons learnt from the COVID-19 pandemic will be used in future to improve training of GCs and to enhance service delivery.

Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics).

PURPOSE: Widespread, quality genomics education for health professionals is required to create a competent genomic workforce. A lack of standards for reporting genomics education and evaluation limits the evidence base for replication and comparison. We therefore undertook a consensus process to develop a recommended minimum set of information to support consistent reporting of design, development, delivery, and evaluation of genomics education interventions. METHODS: Draft standards were derived from literature (25 items from 21 publications). Thirty-six international experts were purposively recruited for three rounds of a modified Delphi process to reach consensus on relevance, clarity, comprehensiveness, utility, and design. RESULTS: The final standards include 18 items relating to development and delivery of genomics education interventions, 12 relating to evaluation, and 1 on stakeholder engagement. CONCLUSION: These Reporting Item Standards for Education and its Evaluation in Genomics (RISE2 Genomics) are intended to be widely applicable across settings and health professions. Their use by those involved in reporting genomics education interventions and evaluation, as well as adoption by journals and policy makers as the expected standard, will support greater transparency, consistency, and comprehensiveness of reporting. Consequently, the genomics education evidence base will be more robust, enabling high-quality education and evaluation across diverse settings.

The experience of Preimplantation Genetic Testing (PGT) among Muslim couples in Oman in the Middle East.

Preimplantation genetic testing (PGT) is an alternative reproductive technology integrated with in vitro fertilization (IVF). It is a well-established technique offering a reproductive option for families at a high risk of transmitting a genetic disorder, allowing them to avoid making a decision about termination of an affected pregnancy (TOP). In Arab communities and particularly in Oman, where TOP is not favored under the majority of implemented Muslim law, termination of pregnancy for fetal indications is not always possible. As these communities are in favor of consanguineous marriage, they are at increased risk of serious and lethal autosomal recessive conditions, and as a result, PGT is a feasible option as a TOP decision can be avoided. However, undergoing PGT is relatively new in the Arab Muslim countries and Omani patients have only recently had access to the service. This qualitative study utilized a phenomenological approach to explore the experience of Omani families who had selected to undergo PGT as a means of reducing the risk of having a child affected with a genetic disorder. Fourteen participants from eight families who underwent PGT were interviewed. Data collected were analyzed using thematic analysis. The research identified four main themes: Anxiously waiting 'Taraqub'; Unforeseen; Secrecy; and Me and My Partner. The findings of the research have provided insight into the PGT experiences of Omani families. Unique cultural and religious perspectives should be considered when counseling Omani Muslim couples.

Video-recording complex health interactions in a diverse setting: Ethical dilemmas, reflections and recommendations.

Video-recording healthcare interactions provides important opportunities for research and service improvement. However, this method brings about tensions, especially when recording sensitive topics. Subsequent reflection may compel the researcher to engage in ethical and moral deliberations. This paper presents experiences from a South African genetic counselling study which made use of video-recordings to understand communicative processes in routine practice. Video-recording as a research method, as well as contextual and process considerations are discussed, such as researching one's own field, issues of trust and anonymity, the challenge of providing true informed consent and capturing details which may cause psychological harm. Several recommendations for research practice in diverse healthcare settings are made. This includes the value of reflective pieces, the importance of retrospective consent, disclosure of the limitations to anonymity, as well as the collective responsibility of those involved to produce ethical research. These recommendations have value for genetic counselling and other healthcare fields.

"There is a chance for me" - Risk communication in advanced maternal age genetic counseling sessions in South Africa.

Providing risk information is central to genetic counseling. Many studies have examined risk communication, but the focus has been on professional and patient perspectives. Less information is available on risk communication in interactions. This study aimed to examine genetic counselors' (GCs) risks communication in multicultural genetic counseling sessions with women of advanced maternal age (AMA). Six GCs (2-20 years' experience) conducted AMA sessions in English (women's second language). The sessions were video and voice recorded and transcribed verbatim. Data were analysed using conversation analysis (CA). CA examines discourse as a topic, i.e. describing the turns, its functions and how these functions are accomplished. Analysis revealed that the GCs presented the risk of having a baby with a chromosome abnormality in several ways and that they invite the women to reflect on the risk information. This discussion was found to be a five step process and showed that the women responded to the invitation to reflect rather than the risk information itself by providing additional information. The counselors in the majority of the sessions responded to this additional information the women provided. It therefore seems that the way in which risks are presented are less important than the meaning of the risks for the women. The research showed the power of interactional research such as CA methodology to gain new insights into old problems. Importantly, the study revealed some on the nuances of risk communication in genetic counseling and has implications for practice.

The Global State of the Genetic Counseling Profession.

The profession of genetic counseling (also called genetic counselling in many countries) began nearly 50 years ago in the United States, and has grown internationally in the past 30 years. While there have been many papers describing the profession of genetic counseling in individual countries or regions, data remains incomplete and has been published in diverse journals with limited access. As a result of the 2016 Transnational Alliance of Genetic Counseling (TAGC) conference in Barcelona, Spain, and the 2017 World Congress of Genetic Counselling in the UK, we endeavor to describe as fully as possible the global state of genetic counseling as a profession. We estimate that in 2018 there are nearly 7000 genetic counselors with the profession established or developing in no less than 28 countries.

Genetic counseling globally: Where are we now?

The genetic counseling profession is continuing to develop globally, with countries in various stages of development. In some, the profession has been in existence for decades and is increasingly recognized as an important provider of allied health, while in others it is just beginning. In this article, we describe the current global landscape of the genetic counseling specialty field's professional development. Using examples of the United States, United Kingdom, Canada, Australia, South Africa, and various countries in Asia, we highlight the following: (a) status of genetic counseling training programs, (b) availability of credentialing through government and professional bodies (certification, registration, and licensure), and potential for international reciprocity, (c) scope of clinical practice, and (d) health-care system disparities and cultural differences impacting on practice. The successful global implementation of precision medicine will require both an increased awareness of the importance of the profession of "genetic counselor" and flexibility in how genetic counselors are incorporated into each country's health-care market. In turn, this will require more collaboration within and across nations, along with continuing engagement of existing genetic counseling professional societies.

Uptake of Genetic Counseling, Knowledge of Bleeding risks and Psychosocial Impact in a South African Cohort of Female Relatives of People with Hemophilia.

In excess of 200 people with hemophilia (PWH) and their families have received genetic counseling (GC) at the Hemophilia Comprehensive Care Centre at Charlotte Maxeke Johannesburg Academic Hospital. However, very few of their at-risk female relatives have attended GC to discuss their reproductive risks and options, or their potential bleeding risks. Limited research has been conducted internationally on factors influencing uptake of GC and testing amongst female relatives of PWH. This prospective study aimed to explore the factors that influence the uptake of GC and testing by female relatives of PWH. An open-ended semi-structured interview schedule was developed. Participants included female relatives of PWH who at least had a family member who had received GC. Seventeen participants were interviewed; 7 who had GC previously and 10 who had not. All participants who had previously received GC found the service helpful and were mothers referred because their sons had hemophilia. Of those who had not had GC, possible deterrents included: being unaware of GC service, focus in clinic on PWH and not potential carriers, misunderstood risks related to hemophilia and carrier status, fear of finding out carrier status, and non-disclosure in families. Most participants were unaware of potential bleeding risks for carriers. The information will be used to provide a better service to female relatives of PWH with a goal being to set up a dedicated hemophilia carrier clinic.

'And then you can decide'--antenatal foetal diagnosis decision making in South Africa.

BACKGROUND: Decision making is integral to genetic counselling and the premise is that autonomous decisions emerge if patients are provided with information in a non-directive manner. The pivotal activity in antenatal diagnosis counselling with at-risk pregnant women is decision making regarding invasive procedures. This process is not well understood in multicultural settings. OBJECTIVE: This study examined multicultural genetic counselling interactions with women of advanced maternal age (AMA). It aimed to investigate the participants' orientation towards the amniocentesis decision. DESIGN: Data were collected during 14 video-recorded consultations between six genetic counsellors and 14 women of AMA in a genetic counselling clinic in South Africa. The design was qualitative and conversation analysis was used for analysis. RESULTS: Analysis revealed that counsellors used several strategies to facilitate discussions and decision making. However, the invitation to make a decision regarding amniocentesis was not perceived as being neutral. Both the counsellors and the women appeared to treat the offer as one which should be accepted. This resulted in a paradox, as strategies intended to allow neutral discussion seem to achieve the opposite. It is suggested that these results may be linked to the local health-care setting. CONCLUSION: The results suggest that the understanding of decision-making processes and enhancing autonomy may require a more detailed investigation into psychosocial, political and historical factors in the local health-care setting. Models of practice as well as the training of genetic counsellors need to be sensitive to these influences. A closer examination of interactional variables may yield new and relevant insights for the profession.

Mothers' experiences of genetic counselling in Johannesburg, South Africa.

Genetic counselling is offered in diverse settings, and patient reactions vary due to differences in personal, family and community beliefs, local healthcare settings, as well as cultural background. Together, these factors influence how individuals experience genetic counselling. This study aimed to describe and document the experiences of thirteen mothers, with children with Down syndrome, oculocutaneous albinism or haemophilia B, who had received genetic counselling at state hospitals in Johannesburg, South Africa. A qualitative research design drawing on principles of Interpretative Phenomenological Analysis was used. Four voice-recorded focus groups were conducted and the resulting data were analysed using thematic content analysis. Five themes were identified in the data: thrown into the unknown; a worthwhile experience; a break in communication; telling the family and the community; and spreading the word. It was seen that genetic counselling cannot be viewed as a singular experience, but rather as one which is influenced by mothers' lived experiences and their interactions with other healthcare services, family and community members. The results from this study showed that genetic services and conditions were poorly understood, that the experience of genetic counselling varied amongst mothers, and on-going patient support is needed particularly when addressing family and community members. Further research is needed to assess what information is valuable to individuals during genetic counselling and how to deliver this information in a contextually appropriate manner. Greater awareness of genetic conditions is also required amongst communities and healthcare professionals. Valuable insight was gained from this study which can be used to improve local training programmes and genetic counselling services in Johannesburg, and in South Africa.

Ethical issues and Huntington's disease.

The practice of genetic counselling gives rise to many ethical dilemmas, and counsellors need to be familiar with the principles of biomedical ethics. The primary principles include respect for autonomy, beneficence, non-maleficence and justice. A case of identical twins at 50% risk for Huntington's disease, in which only one twin sought predictive testing for this dominantly inherited disease, created several ethical dilemmas. Another case where predictive testing was carried out on two young children, at high risk, by a laboratory at the request of an adoption agency and a doctor, with a view to giving information to the foster parents, also posed many ethical conundrums for the counsellor. The ethical issues that arose in these cases are discussed in this paper. 

Roles of genetic counselors in South Africa.

Genetic counseling is a growing health profession in South Africa. Training (set up in 1988) and registration are in place, but job creation remains challenging. The aim of the present study was to investigate the roles played by genetic counselors in the provision of genetic services, in South Africa. A questionnaire comprising items on the types of roles they performed was constructed and counselors were asked to make the log-books, in which they recorded their daily counseling activities, available. A check list was drawn up so that relevant information could be collected systematically from these log-books. Then departmental statistics were accessed from the two universities providing genetic services and genetic counselor training. Structured interviews were conducted with the genetic counselors (16 of 23 participated), and data were collected from their completed questionnaires, log-books and the departmental statistics, for the years 2007 and 2008. These data were analyzed and the findings showed that the counselors counseled about one third (39 %) of all the cases seen at genetic clinics per annum, and the total numbers were increasing. They counseled for 57 different genetic disorders, and their clients represented the range of local ethnic groups. They also had educational, research, marketing and administrative roles. They expected to expand these roles and advance the profession in future. Genetic counselors are versatile, playing several significant roles. As these become better recognized, demand for their services should increase, jobs should be created and the service expanded.

The utilization and outcome of diagnostic, predictive, and prenatal genetic testing for huntington disease in johannesburg, South Africa.

BACKGROUND: Huntington disease (HD) is an autosomal dominant neurodegenerative disorder for which genetic counseling and testing are available in South Africa. OBJECTIVE: The purpose of this study was to assess the utilization of the services available in Johannesburg for diagnostic, predictive, and prenatal genetic testing and counseling for HD and the characteristics of the patients who use them. SUBJECTS AND METHODS: A retrospective study was conducted using records of patients (n=287) who had genetic counseling and/or testing for HD through the Division of Human Genetics, National Health Laboratory Service and University of the Witwatersrand, Johannesburg, between January 1998 and December 2006. Age, gender, number of children, ethnicity, and test results were analyzed. RESULTS: Of the 287 patients included in this study, 77% had diagnostic testing, 20% predictive, and 3% prenatal testing. In the diagnostic group, 47% of subjects tested positive for HD1 and 9% for HDL2 (all Black or of mixed ancestry). Altogether, 66.7% of subjects in the predictive group had testing and 39.5% were positive. In both groups, White subjects were overrepresented. In seven prenatal tests, three fetuses (including a set of twins) tested positive for HD and termination of pregnancy was requested. DISCUSSION AND CONCLUSION: The HD services for predictive and prenatal testing appear to be underutilized, especially by Black individuals, possibly because of lack of awareness among these individuals and among healthcare providers and/or a lower HD prevalence in this group. Recognition of and testing for HDL2 is important in South Africa's large Black population, and HD testing services cannot be considered complete unless testing for both HD1 and HDL2 are undertaken.