There are many ways to ensure patients get genomic care when they need it. We look at three models of service delivery to compare benefits, challenges and key considerations for health services.
Genomics is now essential for patient care in a wide range of medical specialties. It can pinpoint the cause of disease, determine the right medication for a patient, or inform specific steps to prevent a disease from worsening.
Until recently, patients who may benefit from genomic care were managed via a referral model and sent to a clinical genetics service. But increasingly, genomic care is being provided within relevant medical specialties through a collaborative or independent model.
There are several reasons for this change:
- Equity of care. Referral to genomic services can sometimes act as a barrier, especially for patients who are already underserved.
- Patient experience. Many patients prefer to receive care through their usual clinical services. Also, patients may face long wait times for a clinical genetics appointment.
- Patient outcomes. When genomic tests can provide answers that determine a patient’s treatment, delays in access can lead to harm.
- Widening access. There are not enough qualified genetics professionals to meet growing demand.
Melbourne Genomics projects road-tested ways to bring genomic care into other medical specialties. Our approach provided insights to help health services select the most appropriate model.
Complexity, capacity and clinical context inform which model will best meet service needs. Combined with a model of care that clarifies processes, resource allocation, and roles across the care pathway, these approaches help hospitals and services manage demand and capacity while maintaining safe, effective care.
Referral model
This is the traditional model, where clinicians refer patients to a clinical genetics service for diagnosis, genetic counselling and advice.
It remains best practice for some patients with complex clinical presentations, such as multi-system disorders, and care for their relatives who may be eligible for testing.
For example:
- A paediatrician refers a child with multi-system disorders to a clinical genetics service for assessment and diagnostic testing. The genetics service manages all aspects of testing, but the child and their family return to their paediatrician for subsequent care.
Collaborative model
This model involves genomics experts working within other clinical services to provide integrated care.
For example:
- A specialist works with a genetic counsellor embedded within their clinic to assess patients and their families. Patients receive comprehensive medical care and genetic counselling.
Independent model
A patient’s genomic care is managed by clinicians within the specialty who have access to expert genomic advice when they need it.
For example:
- Specialty clinicians are able to assess when their patient could benefit from genomic testing and have responsibility for any testing that is within their scope. They can seek advice at monthly multidisciplinary team meetings, which include specialty and genetics experts.
Choosing the right model
Models road-tested by Melbourne Genomics projects give hospitals and health services a choice in how to provide genomic care within different specialties.
There’s no single model that fits every situation, but asking the right questions can help guide your approach — like how complex the patient’s needs are, how skilled the workforce is, where funding comes from and what safeguards are needed.
Whichever model is chosen, services and clinicians will require support to navigate change. Effective safeguards should be put in place to ensure patients receive high quality care. Clinical leaders driving change can ensure relevance, ownership and integration into day-to-day practice
Sustainable implementation depends on organisational leaders to resource, set direction, align systems and sustain the commitment.
Key considerations
- Genomic care is increasingly delivered within medical specialties rather than solely through referral to clinical genetics services.
- The Melbourne Genomics program defined three models based on observations across projects — referral, collaborative and independent models — each offering different levels of genetics involvement.
- Patient complexity, workforce capacity and clinical context should guide which model is right for your service. Speciality teams may need to be supported by genomic experts through the transition.
Need help developing a model of care?
The Genomics and Your Hospital Toolkit can help you define genomic models of care that suit your patients, workforce and context.