Knowledge, Attitudes, Behavioural Intentions, and Perceived Barriers Regarding Genetic Disorders Among Adults in Khyber Pakhtunkhwa, Pakistan: A Centre- and Community-Based Cross-Sectional Study

Technical Summary: Knowledge, Attitudes, Behavioural Intentions, and Perceived Barriers Regarding Genetic Disorders Among Adults in Khyber Pakhtunkhwa, Pakistan

1. Problem Statement

Genetic and congenital disorders impose a significant health and economic burden in Pakistan, a context characterized by high rates of consanguineous unions (approximately 60% nationally, with first-cousin marriages being dominant) and limited access to specialist genetics services. While the World Health Organization (WHO) recommends community genetics approaches integrating education, diagnosis, and voluntary reproductive choices, Pakistan faces critical gaps in clinical genetics capacity, laboratory services, professional training, and public awareness. Specifically, in Khyber Pakhtunkhwa (KP), there is a lack of population-level evidence regarding community understanding of genetic disorders, attitudes toward counselling and screening, perceived barriers to service utilization, and preferred educational modalities. This study addresses the need for culturally and linguistically appropriate data to design effective education, counselling, and screening programmes in this diverse, semi-urban, and rural region.

2. Methodology

Study Design and Setting:
The research employed a centre- and community-based cross-sectional design conducted between 2022 and 2025 across 22 districts in KP. Due to the unavailability of a complete population sampling frame, participants were recruited via non-probability convenience sampling from thalassaemia treatment centres, blood-transfusion units, support centres, and community outreach activities.

Participants:
The final analysis included 500 consenting adults (aged ≥18) residing in KP. The sample comprised 58.6% males, with 36.6% from rural, 35.6% from urban, and 27.8% from semi-urban settings. A significant portion (49.2%) reported a monthly household income below PKR 30,000, and only 6.2% possessed a healthcare-related educational or professional background.

Instrumentation:
A structured questionnaire was developed based on literature review and pre-tested with 15 adults. It was translated into Pashto and Urdu, with bilingual verification to ensure equivalence. The instrument covered nine sections:

• Sociodemographics: Including residence, income, and education.
• Knowledge: 18 true/false/"do not know" items (scored 0–18).
• Attitudes: 18 Likert-scale items (scored 18–90), with four stigma-related statements reverse-coded.
• Behavioural Intentions: Separate items assessing willingness for carrier screening, premarital counselling, pregnancy counselling, and encouraging relatives (analyzed individually due to low internal consistency).
• Barriers and Preferences: Perceived obstacles to service use and preferred channels/providers for information.

Statistical Analysis:
Data were analyzed using Python (NumPy, SciPy, statsmodels). Descriptive statistics were used for frequencies and means. Non-parametric tests (Mann–Whitney U, Kruskal–Wallis) were employed for group comparisons due to non-normal distribution of knowledge scores. Spearman rank correlations assessed relationships between variables. Reliability was assessed using Cronbach's alpha (attitudes) and Kuder–Richardson 20 (knowledge).

3. Key Results

Knowledge and Awareness:

• Deficit in Knowledge: The mean knowledge score was extremely low at 3.27 ± 2.71 out of 18. 96.0% of participants (480/500) were classified as having low knowledge. Correct response rates for individual items ranged from 15.8% to 21.0%.
• Awareness: Only 57.2% had heard of genetic/inherited disorders. Thalassaemia (24.2%), Down syndrome (16.4%), and haemophilia (9.8%) were the most recognized conditions.
• Service Exposure: Awareness of service locations was minimal (11.2%). Actual utilization was low: 4.0% reported premarital screening, 6.2% genetic counselling, and 8.2% genetic/carrier testing.

Attitudes and Consanguinity:

• Attitudes: The mean attitude score was 61.32 ± 7.06 out of 90, indicating generally supportive but uncertain views. High agreement was noted for confidentiality (56.0%) and dignity for carriers (53.2%), but only 31.6% felt comfortable speaking with a genetic counsellor.
• Correlation: Knowledge and attitudes were strongly positively correlated (Spearman ρ = 0.656, p < 0.001).
• Consanguinity: 61.2% of participants reported parental consanguinity (36.8% first-cousin parents), a rate consistent with or slightly higher than recent regional estimates.

Barriers and Intentions:

• Perceived Barriers: The leading barriers were lack of awareness (80.8%), cost (70.6%), lack of trained specialists (65.4%), religious/cultural concerns (63.4%), and the need for family permission (58.6%).
• Behavioural Intentions: Willingness to undergo specific interventions was modest (25–30%). However, 59.8% expressed willingness to attend a free community awareness session, and 66.0% supported subsidised district-level services.
• Preferences: The preferred language for information was Pashto (81.0%). Preferred channels included mosques/religious gatherings (54.0%), health centres (45.4%), and community sessions (44.6%). Doctors were the preferred educators (29.4%), followed by lady health workers (19.4%).

Determinants:
Knowledge and attitude scores varied significantly by education level and healthcare background (p < 0.001) but did not differ significantly by urban/rural residence. Participants with higher education and healthcare backgrounds demonstrated substantially higher knowledge and more supportive attitudes.

4. Key Contributions

• Empirical Baseline: This study provides the first detailed, multi-district assessment of genetic literacy, attitudes, and service barriers specifically within the KP region of Pakistan, highlighting a severe deficit in public knowledge despite high rates of consanguinity.
• Barrier Profiling: It identifies a complex barrier profile where financial constraints, lack of trained personnel, and sociocultural/religious concerns outweigh purely geographic barriers.
• Service Demand vs. Capacity: The data reveals a disconnect between the high demand for awareness and subsidised services and the current low capacity for genetic counselling and testing.
• Cultural Adaptation: The study explicitly maps the preference for Pashto-language, family-centric, and religiously integrated communication channels, offering a roadmap for culturally competent interventions.

5. Significance and Claims

The authors claim that while there is a "severe deficit" in community knowledge, there is a concurrent "opportunity for intervention" driven by moderate supportive attitudes and high expressed willingness to engage with free or subsidised educational and screening services.

The study concludes that effective programmes in KP must be:

1. Pashtun-centred and family-focused: Utilizing the Pashto language and engaging parents/senior family members who influence decision-making.
2. Non-directive and Confidential: Addressing fears regarding marriage prospects and community reaction while ensuring dignity for carriers.
3. Integrated: Delivered through existing primary care structures, lady health workers, and religious institutions (mosques).
4. Supported by Infrastructure: Education alone is insufficient; it must be backed by cost-effective referral mechanisms, trained specialists, and affordable diagnostic services at the district level.

The authors caution that their findings are based on a convenience sample and should not be interpreted as statistically representative of the entire KP population, nor should they be used to draw definitive national conclusions without probability-based stratified surveys. The study emphasizes that increasing public demand without a corresponding increase in referral capacity and trained personnel could lead to frustration and inappropriate testing.