Community Genetics Perspectives on Reproductive Decision-Making: Knowledge, Attitudes, and Barriers to Pre-implantation Genetic Testing Acceptance Among Families Affected by Hemoglobinopathies in Oman

Technical Summary: Community Genetics Perspectives on Reproductive Decision-Making in Oman

Problem Statement
Sickle cell disease (SCD) and beta-thalassemia major (βTM) are prevalent monogenic disorders in Oman, with carrier rates of 4.8–6% and 2.6%, respectively. While Pre-implantation Genetic Testing (PGT) offers a mechanism for at-risk couples to select unaffected or Human Leukocyte Antigen (HLA)-matched embryos, its utilization remains limited. Despite the availability of PGT for over two decades, there is a documented lack of awareness and varying levels of acceptance among populations affected by hemoglobinopathies. Cultural, religious, and economic factors further complicate reproductive decision-making. This study addresses the gap in understanding the knowledge, attitudes, and practices regarding PGT among Omani parents of children with SCD or βTM.

Methodology
The study employed a cross-sectional, questionnaire-based survey conducted at the Royal Hospital in Muscat, Oman, the primary site for the National Genetics Center.

• Participants: 385 Omani parents with biological children diagnosed with SCD or βTM were recruited from hematology clinics and day-care units. Non-Omani, non-Arabic speaking, and non-parental guardians were excluded.
• Instrument: A two-part questionnaire was developed and validated by seven experts (Content Validity Index) and refined through a pilot study of 20 participants.
  • Section 1: Demographic and family characteristics (age, gender, education, income, number of children, family history).
  • Section 2: Knowledge, attitudes, and practices regarding PGT and premarital screening.
• Data Collection: Face-to-face or telephone interviews were conducted in private settings. Verbal consent was obtained.
• Analysis: Data were analyzed using SPSS version 29. Associations between categorical variables were assessed using Chi-squared tests (or Fisher's exact test/Likelihood ratio as appropriate). A p-value < 0.05 was considered statistically significant.

Key Results

• Demographics: The sample included 53.5% males and 46.5% females, with a mean age of 39.06 years. The majority held high school diplomas (53.1%), and the most common income bracket was 301–600 Omani Rials (33%).
• Awareness and Knowledge:
  • While 96.4% of participants recognized SCD and βTM as inherited disorders, 88.3% were unaware of the risk prior to their first pregnancy.
  • Only 41.8% were knowledgeable about PGT as a reproductive strategy.
  • 58.2% were unaware of PGT entirely, and 92.2% had never undergone the procedure.
  • Sociodemographic Correlations: Higher education (p < 0.001) and higher income (p = 0.007) were significantly associated with greater PGT awareness. Younger participants were also more likely to be aware (p < 0.001).
• Attitudes:
  • Despite low prior knowledge, 86.4% expressed willingness to consider PGT in the future after receiving a brief educational summary.
  • 96.6% agreed that parents should be informed about PGT if their children are at risk, and 96.9% supported government regulation of the technology.
  • 57.7% identified the prevention of disease transmission as the primary advantage of PGT.
  • Concerns were noted regarding psychological and financial burdens (87.8%).
• Practices and Barriers:
  • Among the 92.2% who had not undergone PGT, financial constraints were a cited reason for non-acceptance among those who declined.
  • Among those who had undergone PGT, 43% reported experiencing physical, emotional, and financial stressors.
  • 26% of those who underwent PGT reported not receiving counseling regarding their results.
  • Premarital Screening: Participants who had undergone premarital screening were significantly more likely to perceive the risk of having affected children prior to their first pregnancy (p < 0.001).

Key Contributions
The study provides a comprehensive baseline of the current state of PGT adoption in Oman, highlighting a critical disparity between the high willingness to accept PGT (86.4%) and the low baseline knowledge (41.8%). It identifies specific sociodemographic predictors (education, income, age) for PGT awareness and underscores the role of premarital screening in shaping risk perception. The research also quantifies the stressors associated with the PGT process and the lack of post-procedure counseling for a significant portion of users.

Significance and Claims
The authors claim that the study reveals substantial gaps between knowledge and the willingness to pursue PGT among affected families in Oman. They argue that while acceptance is high, the technology's potential is hindered by limited awareness and accessibility barriers.

The paper concludes that targeted education, the integration of genetic counseling into routine healthcare, and accessible financial support are essential to address these barriers. The authors assert that these measures are necessary to promote informed reproductive decision-making. They emphasize that healthcare providers must proactively incorporate PGT discussions into routine care and that policy recommendations should include increased funding for public education campaigns and the normalization of PGT discussions within prenatal screening protocols. The study does not claim to have solved these issues but rather identifies the specific educational and systemic interventions required to bridge the gap between current practice and the high potential acceptance of PGT in the Omani context.