The patient pathway
Information about a patient’s genetic make-up (often referred to as genomic information these days) can make a helpful contribution to clinical care for some patients and families.
In caring for their patients, healthcare workers in all specialties:
- take a clinical history,
- ensure patients are investigated, treated and managed appropriately
- and give information about the condition.
So where might genomic information be helpful in this pathway?
- Taking a family history to see if there is a pattern of other people in the family with the same condition may suggest or confirm a major underlying genetic cause
- Tests looking at a person’s genetic make-up may confirm a diagnosis, or give information about whether they are likely to develop a condition, or be a carrier for, a condition which is running in the family.
- Testing a tumour for genetic changes may lead to a drug being used which is specifically targeted at that type of tumour. Genetic testing for an infection may lead to accurate diagnosis or specific treatment.
- Genetic information may have implications for other members of the family, and may be helpful in a person’s decision about having children
So how can a health worker make sure that any underlying genetic causes of the condition can be taken into account?
In particular, it is important to identify those patients and families who have a condition where there is a major genetic component. Asking the following questions may be helpful:
- How can I identify those of my patients whose illness is associated with a major genetic contribution?
- How do I refer patients for specialist genetic assessment and information?
- Where can I find more information about genetic conditions and their treatment?
- What ways are there of explaining inheritance patterns to my patients?
- Does this genetic diagnosis have any implications for the patient’s family?
The knowledge, skills and attitudes underlying nine of the genetics activities which non-genetics healthcare staff may find helpful have been developed into workforce competences/national occupational standards. If any of the following form part of your role it may be worthwhile your looking at the helpful detail in the competence about how to deliver the activity in practice.
Key resources for the patient pathway
Taking and Drawing a Family History (Complete series)
Use this series of eight factsheets, two cancer scenarios and a crossword puzzle to learn how to systematically collect and record multi-generational family history information.
How is genetics relevant to my role?
This factsheet comprises a set of nine questions that can be used to help you identify how genetics may be relevant to your role. Examples describe how other healthcare professionals have used these activities in their clinical settings.
Making a referral to your Regional Genetics Centre (Genetic activities in practice)
A summary of how to refer a patient to a genetics centre.
What does a patient need to know about a referral to the genetics service? (Genetic activities in practice)
A summary of the information patients need to know when they are referred to a genetics service.
Communicating genetic information
Key tips for taking and drawing a genetic family history in clinical practice
This factsheet provides some helpful tips for taking and drawing a genetic family history.
Talking to patients about genetics - what words should I use?
This table provides some suggestions as to terms used when discussing genetic conditions with patients, and some alternatives which patients say they prefer.