Genetic counseling development and milestone in Oman

Abstract

Genetic counseling as an emerging profession has seen an expansion around the world. In the Sultanate of Oman, the profession has developed with the establishment of clinical and biochemical genetic services in 2010 and genetic counseling services in 2011. Currently, 3 main genetic counseling teams serve the country through qualified genetic counselors who completed internationally recognized MSc program. The genetic counselors are working in governmental clinical genetic units and play vital roles in enhancing the quality of genetic services dealing with pediatric and adult-onset disorders. The impact of the service is reflected in the escalated demand for preventative measures, such as alternative reproductive options, premarital genetic counseling and testing, and predictive counseling and testing. Despite the limited resources and absence of a licensing body, the genetic counseling profession in Oman is progressing. This special report describes the development of genetic counseling in Oman and the milestones reached. It details the areas of service, scope of practice, and the unique social and cultural nuances inherent to genetic counseling in Oman.

Introduction

Formal education in the field of genetic counseling commenced in the United States in 1969 at Sarah Lawrence College in New York, with the subsequent global expansion of training programs occurring during the late 1980s.^1,2 Since then, many and varied definitions have been developed to describe genetic counseling, with one of the most widely utilized provided by the National Society of Genetic Counselors as “the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease.”3, 4, 5, 6, 7, 8 This process typically consists of several steps, including (1) assessing the chance of disease occurrence or recurrence based on the family and medical history; (2) facilitating patient education in terms of the genetics, testing options, management, prevention, ongoing research, and available resources; and (3) counseling of patients/clients to enable an informed decision concerning their choices and adaptation to the risk or condition.⁷ Historically, genetic counseling primarily focused on prenatal and pediatric genetic services and decision making around reproduction. However, genetic counselors now also extend their expertise across nearly all medical specialties, and many also have a presence in laboratories, research and education institutions, and medical insurance agencies. As of 2019, there were close to 7000 qualified genetic counselors recorded with training programs established in over 28 countries.⁹ At the time, minimal information was documented on the situation in the Sultanate of Oman. The current work therefore describes the genetic counseling services, training, and professional scope of practice for counselors operating within this Middle Eastern country.

The Sultanate of Oman, situated in Southwest Asia, is a predominantly Muslim country with a population of around 5 million. The majority of the population consists of individuals of Arabic descent, with some contribution from Persian, South Asian, and African descent.^10,11

Similar to many other Arabian countries, consanguinity remains a respected tradition, owing to the recognized social and financial advantages it brings to families. First-cousin marriages from the paternal side are favored in these countries.^12,13 In a comprehensive clinic-based study involving 60,635 Omani couples of childbearing age, data revealed that consanguineous marriages were present in 56.4% of the couples,¹⁴ a figure which fell to 52% 10 years later.¹⁵ Genetic and congenital disorders are more common in countries that practice consanguineous marriages, with a predominance of recessively inherited disorders.¹⁶ The incidence of these disorders in Oman exceeds 7%, which is more than double the global statistics.^17,18 The increased frequency of some rare recessive disorders is attributed to the consanguineous practice, although the tribal structure of the population and preference for inbreeding within isolated populations also impact on the burden of genetic disorders (endogamy). Other factors that contribute to the elevated rates include high maternal and paternal ages, large family sizes, and restrictions on certain preventative reproductive options, in light of cultural, legal, and religious considerations.^16,19

Oman has a well-organized government-funded health care system, offering free health care access to Omani citizens. Clinical and biochemical genetic services were first established in 2010 at the Genetic and Developmental Medicine Clinic (GDMC) within Sultan Qaboos University Hospital (SQUH). Since then, the service has expanded to include an additional 2 centers, the National Genetic Center (NGC) and the Sultan Qaboos Comprehensive Cancer Care and Research Center (SQCCCRC). Each of the 3 centers are equipped with diagnostic molecular and cytogenetic laboratories.

In 2011, the genetic counseling service was established by a non-Omani, non-Arabic speaking genetic counselor who worked at the GDMC for 10 years. To support the non- Arabic speaking genetic counselor and to ensure sustainability, an Omani genetic counseling candidate assisted with translation while awaiting enrollment in an MSc program. In 2015, the first Omani genetic counselor graduated from Cardiff University’s MSc genetic counseling program and returned to Oman to work as a genetic counselor until 2017 when the counselor changed career paths. During the same year, another significant milestone was reached with the acceptance of the first Omani genetic counseling student into the MSc program at the University of Cape Town (UCT), South Africa. A joint clinical training initiative was established between UCT and SQUH, which marked the formalization of a training pathway tailored for Omani students in genetic counseling. This collaboration was built upon the recognition that training and supervision could be offered in Oman by the non- Omani genetic counselor, a graduate from UCT with greater than 5 years of experience, together with 5 Omani clinical and biochemical geneticists trained in well-known Canadian and European medical genetics fellowship programs. Students that enrolled into the program adhered to UCT’s application and admission processes and successfully accepted applicants enrolled in a full-time academic program including course work and a dissertation research component. Through the collaborative clinical training program, the student, as well as future students, were able to pursue a formal MSc certification through UCT while conducting the majority of their clinical training in Oman. This approach provided the advantage of sensitizing them to the distinct social and cultural nuances inherent to the population they would be providing genetic counseling to. Because of the success of the program, 4 additional students who met the UCT admission criteria were accepted and enrolled in 2020, 2021, and 2022. One has successfully completed the degree requirements and passed the clinical training, whereas the other 3 are in their final year of training. Currently, 3 Omanis with MSc degrees in genetic counseling and 1 non-Omani genetic counselor with a PhD are leading 3 main genetic counseling services in Oman. This report specifically focuses on genetic counseling services provided by qualified genetic counselors holding an MSc in genetic counseling and who have completed the necessary competences according to recognized international standards such as the National Society of Genetic counselors.²⁰ It does not encompass practices conducted by individuals with other qualifications.

The areas of practice for genetic counselors in Oman

Clinical services

At present, 3 main genetic centers are located in the capital city, Muscat. These centers serve the whole country and provide genetic counseling services facilitated by genetic counselors who hold a MSc/PhD qualification in genetic counseling. The first service was established at the GDMC at SQUH in 2011, followed by the SQCCCRC in 2021 and NGC, which is affiliated with the Omani Ministry of Health, in 2022 (Table 1). The SQCCCRC offers a specialized service, focusing on a range of cancer predisposition conditions except hematology oncology. The primary focus is on affected individuals undergoing pre- and post-genomic testing, as well as their at-risk relatives for predictive counseling and testing with the aim of early detection though surveillance. Conversely, the GDMC and NGC address a wider array of genetic disorders affecting pediatrics and adults, encompassing inborn errors of metabolism, inborn errors of immune system, neurodevelopmental, neuromuscular, cardiomyopathies, nephrotic syndromes, and rare blood disorders.

Table 1.

Genetic counseling service in Oman

Genetic Counseling Service	GDMC	NGC	SQCCCRC
Established	2011	2020	2020
No. GC (MSc/PhD)	2 (MSc)	1 (MSc)	1 (PhD)
On-Job-trainees	2	1 (2nd year MSc)	2 (2nd year MSc) 2 (awaiting application)
Clinic per week	4 (1 PMT, 1 reproductive genetics, 2 general)	4 (general)	5 (multidisciplinary)
Waiting list	6 weeks	4 months	4 weeks
Patients per year	540	430	700
New/follow-up	2 new 2 follow-up	4 new 2 follow-up	4 new 2 follow-up

GC, genetic counselor; GDMC, Genetic and Developmental Medicine Clinic; NGC, National Genetic Center; PMT, premarital counseling and genetic testing; SQCCCRC, Sultan Qaboos Comprehensive Cancer Care and Research Center.

Genetic counselors are integral when it comes to providing assessment of the risk of familial recurrence or the risk of these conditions occurring. They are also vital in implementing preventative strategies, including premarital counseling and genetic testing (PMT) for immediate extended family members, and offering alternative reproductive genetic options to affected couples, such as prenatal diagnosis (PND) and preimplantation genetic testing (PGT). The rapid growth in service utilization is evidenced by the escalation of booked patients from 200 cases in 2012 to 700 in 2023, 52 cases in 2021 to over 400 by 2023, and 416 in 2022 to 430 in 2023 in the GDMC, SQCCCRC, and NGC, respectively.

The increased demand for preventative measures, such as PMT, PND, and PGT, all of which require targeted testing for familial variants, can be interpreted as a reflection of the impact of counseling. With personalized counseling sessions for potential couples, the GDMC had facilitated PMT for over 600 cases during the last 10 years. This approach is particularly suited for recessive disorders present in families with a high level of consanguinity or endogamy and enables individuals at increased familial risk to make well-informed decisions regarding their marriage plan which can ultimately reduce the burden of the disorder’s recurrence in the family. Genetic counseling for PMT is offered upon request in a nondirective manner, and the prospective couple have the full autonomy to proceed or cancel the marriage plans.

A similar trend can also be seen with regard to the increased PND uptake, demonstrating the effectiveness of a nondirective approach when combined with well-informed decision making. This service is available to families with a molecularly confirmed genetic diagnosis through either chorionic villus sampling or amniocentesis at the GDMC or NGC. Couples may consider termination of an affected fetus if the condition meets the criteria of internally developed guidelines governing termination of pregnancy (TOP) for fetal indications.²¹ Because of the absence of national guidelines and no formal law in Oman, these guidelines were developed as a standard operation procedure and abide by the Royal Decree governing the practice of the medical profession and allied health professionals.²² However, the outcome of the service is still being disputed because there are no formal laws permitting TOP for a condition that does not present as a congenital anomaly. The PGT service is not offered as a governmental service but is available through private centers. However, the Ministry of Health has established a referral system, with financial support from the government, for families with pathogenic or likely pathogenic variants linked to familial risks. Families with a molecularly confirmed diagnosis of an early onset disorder who have 1 or fewer healthy children may apply. The genetic counseling team have been instrumental in setting up the service, choosing appropriate centers, and assessing potential risks. Before referring couples, the team typically conduct 2 to 3 counseling sessions to explain the procedure and associated limitations. This is particularly crucial because not all of the PGT centers in Oman offer genetic counseling services or have access to medical geneticists. Additionally, the genetic counseling team thoroughly evaluates the family’s medical history to identify any other potential risks, provides targeted testing, and makes appropriate referrals for management or surveillance where required. Since 2013, the GDMC has assisted with over 170 PGT referrals with an average success rate of a live birth is 24% (local database). PGT is also provided to cancer syndromes that have an early onset presentation, such as Li-Fraumeni syndrome, Von Hippel Lindau, and Fumarase Deficiency, the latter of which presents with lethality in the homozygous state. The referral is made to the PGT centers after collaboration between SQCCCRC and the GDMC or NGC.

Teaching

The 3 genetic counseling centers are integrated into tertiary care hospitals equipped for training and education. The SQUH and SQCCCRC are affiliated under the University Medical City in which 6 geneticists and 3 genetic counselors at both centers are involved in teaching at different curriculums for medical and allied health postgraduates and undergraduates, as well as the medical genetics fellowship program. Moreover, for the last 9 years, the GDMC has been a host for clinical training for both international and national students pursuing their first and second years of Master’s degrees in international genetic counseling programs (UCT and Cardiff).

In 2023, an MSc genetic counseling program was submitted to be established under the Genetics Department at the College of Medicine and Health Sciences at Sultan Qaboos University. This will be crucial in providing the country with trained genetic counselors to meet the demand and expand their role across various clinical and medical specialties.

A standout accomplishment within the realm of education was the successful collaboration in hosting the European Society of Human Genetics Basic and Advanced Genetic Counseling Course in Muscat. This event was planned to be held biennially from 2015 and has been successfully organized 3 times to date. Because of COVID-19 pandemic restrictions, the course, similar to many other interactive focused-group scientific activities, could not be conducted as planned. In 2023, the course took place in Bertinoro, Italy, and the fourth iteration is scheduled to be held in Muscat in 2024 (https://www.eshg.org/courses). The aforementioned achievement, as well as the involvement of the genetic counselors in organizing other conferences, workshops, and courses, are important steps to elevating the standard of genetic counseling training in the region.

In addition, the genetic counseling team, in collaboration with the Oman Medical Genetic Society, has also established an educational project targeting college and high school students under the name “Genetics and Genomic for youth” and provides educational lectures, scientific exhibitions, and competitions. The aim is to create awareness regarding rare disorders, the importance of seeking a genetic diagnosis, the service availability, and the preventative measures to avoid risk of recurrence though premarital genetic counseling and testing.

Research

In Oman, the relatively few qualified genetic counselors are working exclusively at government clinical hospitals. Although there is a clear need, genetic counselors have not yet been allocated to roles within research sectors, laboratories, or private clinical settings. Nonetheless, because the 3 genetic counseling centers are embedded within academic institutions, genetic counselors do participate in clinical research. These studies have contributed to developing standards of practice for dealing with highly consanguineous populations, as well as genetic counseling for PGT and PND.^19,21,23,24 Genetic counselors also contribute to the international community through a number of publications, sharing their experiences at conferences and peer reviewing at different journals.

Profession recognition and licensing

Similar to many other countries, Oman lacks both professional recognition and a license for the relatively new profession. Obtaining official job recognition from the Ministry of Health, establishing a scale hierarchy and setting up a regulatory body under the Oman Medical Specialty Board are important key steps that still need to be formalized.

Despite the lack of official recognition, the 3 genetic teams recognize the crucial role that genetic counselors play and fully support the advancement of the profession and career development. To assist the aforementioned process, individuals interested in the field are recruited as biomedical scientists and receive on-the-job training while assisting their senior genetic counselors. These individuals are required to pursue their academic qualifications in genetic counseling either through a part-time program, such as the MSc program at Cardiff University, or a full-time program through the UCT or any other full-time recognized MSc program. Two of the appointed genetic counselors working in Oman (1 left in 2021) are non-Arabic speaking South African PhD holders registered with the Health Professions Council of South Africa with 5 to 15 years of experience. These counselors have played a major role in establishing the service (1 at SQU and the second at SQCCCRC) and supervising the genetic counselors who are receiving on-the-job training. The trainees, while receiving their clinical training, are translating sessions for the non-Arabic-speaking genetic counselors. The on-the-job training involves structured clinical rotations with the geneticist, senior genetic counselors, and laboratory technologists. Trainees develop skills in preparing for clinics, collecting pedigree related information, interpreting different genetic test results, and applying critical thinking to assist with problem solving. This training does not have a time limit but rather focuses on acquiring practical skills. The on-the-job training ensures that aspiring genetic counselors receive comprehensive training and support while they are working toward their MSc qualifications. After earning an MSc in genetic counseling, the genetic counselor undergoes a 1-year internship under the direct supervision of a senior genetic counselor before being able to work independently.

Despite the level of qualification, the job title remains as biomedical scientists because no formal job scale or recognition scale exists.

Offered services in comparison with benchmarks and international standards

Owing to the dearth of genetic counselors in Oman, each of the 3 teams run 4 clinics a week. The GDMC and NGC receive general referrals encompassing a broad spectrum of genetic disorders. Given the rarity of these cases, it is not surprising that each case requires intensive preclinic preparation. An average of 45 to 60 minutes is considered for new appointments and 30 minutes for follow-ups. A single genetic counselor may manage 5 clinics a week, with 6 appointments (4 new and 2 follow-up) scheduled each day in an effort to reduce the waiting list and cover the demand on the service. Similarly, the SQCCCRC sees 6 to 8 patients per day with a maximum of 30 minutes allocated per patient. The average waiting time at the SQCCCRC is approximately 1 to 2 months, with the exception of cancer cases that may benefit from targeted therapies being scheduled sooner. In the era of precision medicine, targeted therapies are becoming available for various cancers.

These include not only young patients with or without a family history of cancer, but also peri and postmenopausal women with triple-negative breast cancer, advanced-stage metastatic and HER2-negative breast cancer, metastatic and castrate resistant prostate cancer, pancreatic cancers, and ovarian cancers. These cases are referred for genetic evaluation and BRCA1/2 pathogenic variant analysis to aid in therapeutic decision making. All cases found to have a BRCA1/2 or PALB2 pathogenic or likely pathogenic variant are considered for targeted therapy.

Aside from urgent cases such as PND, new referrals take 2 to 3 months and 6 months to be seen at the GDMC and NGC, respectively. The long waiting time for general genetic counseling puts the service at risk of deviation from the international Benchmark.²⁵ The GDMC and the NGC collaborate to standardize the referral pathways and triaging system to address waiting list disparities and uphold fairness in service access for similar patients. In-person consultation is the regular service model at all centers. For certain cases who do not require in-person attendance alternative models, such as remote clinics through virtual and phone calls, are utilized. Phone calls are typically offered for a follow-up and, if the patient chooses, result delivery. The latter examples are often offered to patients and family members who are in remote geographic areas. To enable care for urgent cases, such as PMT and PND, during the pandemic lock down, the GDMC set up a virtual clinic. It has been used ever since as a substitute for families unable to attend in person because of social or economic constraints. Since 2020, a total of 60 first-visits have been conducted in addition to 30 follow-up virtual sessions. Surprisingly, many families request virtual clinics because they want to spend less time away from their sick children. To facilitate easier accessibility, the genetic counseling clinic at the GDMC assigned a WhatsApp number to provide family members with quick access to self-referrals and appointment bookings for PMT. Timely access to the PND service is also facilitated for at-risk families with an ongoing pregnancy. This service, along with the telegenetic facility, has become an official service at the GDMC.

When necessary, the genetic counselors have the authority to medically refer patients to other specialists and provide customized letters or reports based on the patient’s needs. They have the independent authority to request panel tests for certain diseases, such as cancer, and target genetic testing. Because exome sequencing is requested for cases that are still undiagnosed and under the care of clinical geneticists, none of the practicing genetic counselors make this request independently, and if needed, a referral is made to a clinical geneticist.

Special features and challenges in practice

Genetic counselors in Oman must possess an understanding of specific cultural nuances and practices that are prevalent within the Arabic society. Although a comprehensive exploration of these elements is beyond the scope of this article, it is essential to highlight some key aspects.

Consanguinity and endogamy

An example of the implications for practice with consideration for the high prevalence for consanguineous marriages and endogamy includes the importance of acknowledging the significance of this tradition and consideration of a customized PMT approach to support the prospective couple’s informed decision-making process for arranged marriages.

High prevalence of hemoglobinopathies

The high prevalence of hemoglobinopathies, coupled with an ineffective premarital screening program, necessitates careful consideration when counseling families about potential risks, particularly in the context of PMT and PGT. The current premarital national screening program has low intake and does not meet the expected outcome to reduce the incidence of sickle cell disease and β-thalassemia.²⁶ Remodeling the approach and training the focal intake health centers is under-revision.

Family dynamics

Family dynamics, functioning as protective and collective systems, significantly influence decision-making processes. In some cases, young couples may choose to withhold their diagnosis to prevent interference from parents and older respected individuals, thereby preserving their autonomy in making informed decisions. The fear of stigma, vulnerability to losing autonomy, and being overwhelmed by emotions can hinder timely accessibility of familial genetic information for other family members. This can lead to a complicated cascade of occurrences of certain disorders, which could have clinical advantages with early management. Despite the absence of direct health implications, disclosing carrier status for an autosomal recessive disease can pose significant social and emotional challenges, particularly in premarital scenarios, for both females and males. Recent research, conducted by the genetic counselors at the GDMC exploring the attitudes of families with genetic disorders on PMT targeting the familial genetic risk, suggests that this view may be changing. In the studied cohort, 70% of the sample had disclosed the genetic diagnosis, and 72% of them recommended premarital testing to their relatives (research under publication).

Religious and legal influences

Religious and legal considerations play a significant role in determining the use of preventative reproductive options such as PND and PGT in Oman, particularly in the absence of national legislation. Currently, the primary religious Fatwa in Oman does not permit TOP unless the ongoing pregnancy poses a significant risk to the mother.²⁴ However, many fetal medicine doctors, geneticists, and genetic counselors rely on the Fatwa issued by the World Islamic League’s Jurisprudence Council in 1990. This Fatwa, widely implemented across Islamic countries, permits termination for fetal indications under strict criteria. In an effort to establish a standard of care, an internal guideline has been developed based on Islamic Fatwas and emerging genomic information. For example, the utilization of novel genes or variants in clinical practice for alternative reproductive options requires stringent evidence of disease association before implementation. This approach aims to ensure that reproductive options align with religious principles while also incorporating advancements in genomic information.²¹

Absence of a comprehensive premarital screening test

Dealing with complex molecular results in which more than 1 inherited disorder is present within the same family or tribe. In the absence of a national genomic project, the cumulative database extracted from genome sequencing and exome sequencing is utilized to promote customized premarital genetic counseling and testing for individuals from the same family or tribe. Collecting an accurate family history with the family’s precise origin/tribe is crucial because each subgroup can have a specific genetic disorder. As a result, relatives may have an associated increased risk of having an affected child (medical conditions can be linked with a specific tribe/origin).

Precautions should be considered to maintain the delicate balance between confidentiality and nonmaleficence.

Interpretations of implications of variants of uncertain significance

Interpretation of variants of uncertain significance continues to be challenging because of the underrepresentation of the Middle Eastern population data in the international population databases, such as gnomAD.²⁷ Because many genetic tests are outsourced to international laboratories, a large number of variants remain classified as variants of uncertain significance, thus obstructing the utilization of these variants for preventative reproductive options.

Additional evidence, such as functional studies, may not always be feasible or result in reclassification of the variant.

Conclusion

The genetic counseling service in Oman has reached a significant milestone, completing a decade of progressive development. During this time, 3 Omani genetic counselors have obtained their qualifications, and 3 more Omani genetic counselors are expected to graduate by the end of 2024. Currently, all practicing genetic counselors are employed at governmental tertiary hospitals within clinical genetic services. In addition to counseling duties, genetic counselors are actively involved in teaching, training, and supervising both national and international undergraduate and postgraduate students.

Practicing genetic counselors encounter various challenges, including dealing with rare and ultrarare disorders, navigating the complexities of multiple inherited recurrence risks, the limited genomic representation of the Omani population in international databases, and the absence of legislation of preventative reproductive options. To cover the demand for the service and sustainability of the profession, an MSc program has been proposed and, if accepted, will include the 3 centers as training facilities. Despite these challenges, genetic counselors in Oman remain committed to providing high-quality care and support to individuals and families affected by genetic conditions.

Declaration of AI and AI-Assisted Technologies in the Writing Process

During the preparation of this work the author(s) used [Scribbr tool] to help with proofreading the manuscript. After using this tool/service, the author(s) reviewed and edited the content as needed and take(s) full responsibility for the content of the publication.

Conflict of Interest

The authors declare no conflict of interest.