Guidance

SCT counselling knowledge and skills overview

Published 28 September 2020

This guidance describes the provision of high quality, competent and sustainable counselling services for people potentially at risk of having a baby with a clinically significant haemoglobinopathy.

Haemoglobinopathies include haemoglobin variants such as sickle cell and the thalassaemias such as beta thalassaemia. These conditions occur as a result of a genetic alteration (mutation) in the haemoglobin gene. More than 1,000 mutations have been identified that result in haemoglobinopathies.

Each individual has two copies (alleles) of the haemoglobin gene, one from each parent. Most haemoglobin mutations are clinically insignificant in the carrier state. That is when an individual inherits one copy of the usual haemoglobin gene and one unusual (altered) haemoglobin gene. For example, an individual who inherits normal haemoglobin A and sickle haemoglobin S is a sickle cell carrier (HbAS).

Other common carrier states include:

• haemoglobin C carrier (HbAC)
• haemoglobin D carrier (HbAD)
• haemoglobin E Carrier (HbAE)
• beta thalassaemia carrier (HbAβThalassaemia)

The above are all healthy carrier states and individual carriers do not experience any clinical manifestation or symptoms.

However, there is a genetic relevance to being a carrier. When the altered haemoglobin gene is passed on from a carrier parent to a child in combination with another altered haemoglobin gene from the other parent, the combination may result in a mild or severe illness, for example sickle cell anaemia (HbSS), beta thalassaemia major (HbβᴼβᴼThal), haemoglobin C disease (HbSC), haemoglobin D disease (HbSD) and haemoglobin E disease (HbSE). Two of the most severe are sickle cell anaemia and beta thalassaemia major which cause serious, life changing and potentially debilitating conditions.

The core competences in this guidance focus on sickle cell and thalassaemia but apply to all haemoglobinopathies.

Provision of genetic information and counselling helps individuals make informed decisions about reproduction and parenting. For those at risk, this information will also enable their children and extended family members to access the genetic information needed for future genetic decision making.

1. Knowledge and skills required

The core competences in this guidance refer specifically to areas of healthcare that focus on supporting people to deal with genetic risk. In many cases, the practitioner will be a sickle cell and thalassaemia specialist. The core competences are also relevant for other health and allied professionals, such as genetic counsellors, midwives and health visitors, where an important aspect of their role is working with those at risk of these conditions.

These core competences reflect the minimum requirements for people working in these roles, although it will not be appropriate to use every competence in every case. Health professionals should use their professional judgement to use the relevant knowledge, skills and attitudes to provide effective care on an individual basis.

Some health professionals faced with providing genetic counselling will not have sufficient specialist education, experience or expertise. In those cases they should seek support from other relevant services or colleagues when required.

2. Definitions

There are 8 core competences relating to the knowledge, skill or attitude required for a professional to perform their role.

The learning outcomes are the desired end result of education or training aimed at enabling the professional to become competent.

The practice indicators provide a measure of how the competence would be demonstrated in a practice setting.

To enable practitioners to develop the necessary competences, links to additional learning resources are provided.

We have also created a pro forma job description for a haemoglobinopathy specialist as an example of how the competences might be incorporated into a job description and appraisal.

3. Renewal and review of learning

Practitioners should discuss and demonstrate the practical indicators with their assessor. This can be in a clinical setting or during a formal appraisal. The assessor should define the time frame by which they expect a practitioner to have met all 8 core competences. Ideally this should be within the first year of being appointed to the relevant post.

Once all 8 core competences have been met, training should be reviewed at least every 3 years.

Assessors are those with knowledge, skill and experience in sickle cell and thalassaemia genetic counselling and who have completed the Genetic Risk Assessment and Counselling or equivalent course.

Practitioners may have more than one assessor when completing the assessment document in an agreed timeframe.