Overview of TrakGene

TrakGene is a specialist clinical genetics management platform designed to capture, visualise and manage family and genomic data within a secure electronic environment. The system supports:

• Electronic pedigree construction

• Structured phenotype and diagnosis recording

• Integration of genetic test results

• Risk assessment tools

• Referral and clinic workflow management

• Creation of linked electronic records for all family members

A defining feature of TrakGene is its ability to treat the family as the core unit of care. Each individual within a pedigree has a linked electronic record, enabling clinicians to see relationships, inheritance patterns and clinical data in a unified format. This is particularly valuable for conditions with autosomal dominant, recessive or X-linked inheritance.

Implementation within an NHS Clinical Genetics Service

1. Digital Family History Capture

In many NHS genetics services, patients are asked to complete family history questionnaires prior to clinic appointments. Historically, this information would be manually transcribed into pedigree drawing software or scanned into electronic records.

With TrakGene, patients can provide structured family history information electronically before their appointment. This data feeds directly into the system, where clinicians can review, validate and expand upon it during consultation. Automated pedigree generation reduces administrative burden and minimises transcription errors.

For example, in an inherited cancer clinic, a patient referred due to a strong maternal history of breast and ovarian cancer can input details of affected relatives, ages at diagnosis and relevant medical history. The clinician can then refine this information in real time, producing a clear three-generation pedigree that supports accurate risk assessment.

2. Integrated Genomic Health Records

One of the challenges in clinical genetics is maintaining longitudinal records for extended families over many years. When a pathogenic variant is identified, multiple relatives may require predictive testing, surveillance or preventive treatment.

TrakGene creates an electronic health record for each individual within a family network. If a pathogenic BRCA1 variant is identified in one person, the system allows clinicians to:

• Record the laboratory result in a structured format

• Flag first-degree relatives as eligible for predictive testing

• Track which relatives have been contacted, tested or declined testing

• Document surveillance recommendations

This structured approach supports cascade testing pathways and reduces the risk of relatives being lost to follow-up. It also enables services to audit uptake of predictive testing and measure performance against national standards.

Similarly, in inherited cardiac conditions such as hypertrophic cardiomyopathy, family members may require periodic clinical screening even if genetic testing is inconclusive. The system can generate reminders and maintain surveillance schedules over long periods.

3. Clinical Decision Support and Risk Assessment

Clinical genetics relies heavily on accurate risk estimation. Tools embedded within TrakGene support clinicians in calculating disease risks and determining eligibility for testing based on established guidelines.

For instance, in a Lynch syndrome referral, structured recording of colorectal and endometrial cancer diagnoses within a pedigree enables risk assessment models to be applied more reliably. This helps clinicians decide whether germline testing is appropriate and whether enhanced colonoscopic surveillance is indicated for relatives.

The use of structured data improves the consistency of decision-making and supports multidisciplinary working between geneticists, genetic counsellors, oncologists and other specialists. It also enhances the quality of clinic letters and communication with referring clinicians.

4. Workflow and Referral Management

NHS Clinical Genetics Services often manage high referral volumes across multiple subspecialty clinics, including:

• Inherited cancer

• Prenatal genetics

• Rare disease diagnostics

• Cardiac genetics

• Neurogenetics

TrakGene supports end-to-end workflow management, including referral logging, triage documentation, appointment tracking and follow-up scheduling. Automated task lists and alerts help teams manage complex caseloads efficiently.

For example, if a laboratory report identifies a pathogenic variant requiring urgent family contact, the system can generate follow-up tasks to ensure that relatives are offered appointments promptly. In long-term surveillance conditions such as familial hypercholesterolaemia, periodic review appointments can be scheduled and monitored systematically.

This functionality improves service resilience and reduces administrative burden on clinical and clerical teams.

5. Data Quality, Governance and Audit

Genomic medicine demands high standards of data governance and traceability. TrakGene supports structured data entry, role-based access controls and audit trails of record modifications. This is essential in a specialty where information may be clinically actionable for decades.

Structured datasets also enable service evaluation and research. An NHS Clinical Genetics Service can generate anonymised reports on:

• Number of families with confirmed pathogenic variants

• Uptake rates of cascade testing

• Surveillance compliance

• Referral patterns by specialty

Such data are valuable for quality improvement initiatives and commissioning discussions.

6. Interoperability within the NHS Genomic Landscape

As NHS genomic services evolve, interoperability between laboratory information systems, hospital electronic patient records and national genomic databases becomes increasingly important.

TrakGene is designed to integrate with laboratory reporting systems and external healthcare platforms. This reduces duplication of data entry and ensures that genomic results are captured consistently within family records.

In a rare disease setting, for example, whole genome sequencing results can be documented within the pedigree framework, linking genotype to phenotype across affected relatives. This integrated approach supports reanalysis of variants over time as scientific knowledge evolves.

Benefits Observed in Practice

An NHS Clinical Genetics Service using TrakGene can expect several tangible benefits:

1. Improved data completeness and accuracy – Electronic capture reduces transcription errors and missing information.

2. Enhanced patient engagement – Digital input of family history empowers patients and encourages active participation in care.

3. Efficient cascade testing management – Structured tracking ensures at-risk relatives are identified and followed up.

4. Streamlined clinic workflows – Integrated referral and task management reduces administrative overhead.

5. Long-term family tracking – Linked records support surveillance across generations.

6. Robust audit capability – Structured data enable service evaluation and reporting.

Conclusion

Clinical genetics is uniquely family-focused, data-intensive and longitudinal in nature. As genomic medicine becomes embedded across the NHS, services require digital infrastructure capable of managing complex pedigrees, genomic results and multigenerational follow-up safely and efficiently.

TrakGene provides a comprehensive solution tailored to the needs of NHS Clinical Genetics Services. By integrating pedigree construction, structured genomic records and workflow management into a single platform, it enables services to deliver coordinated, patient-centred and scalable care.

In an era of expanding genomic testing and increasing demand for precision medicine, robust family data management systems are no longer optional—they are foundational to safe and effective clinical genetics practice.