I'm in Clinical Practice
This section of the website is where you will find guidance, tools and practical tips to help with such questions. We have organised the material under three clinical headings to mirror 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.
- Identify where genetics is relevant in your area of practice
- Identify individuals with or at risk of genetic conditions
- Gather multi-generational family history information
- Use multi-generational family history information to draw a pedigree
- Recognise a mode of inheritance in a family
- Assess genetic risk
- Refer individuals to specialist sources of assistance in meeting their health care needs
- Order a genetic laboratory test
- Communicate genetic information to individuals, families and healthcare staff