Staff Resources & Support

Cystic Fibrosis (CF) is an autosomal recessive condition (https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/autosomal-recessive-inheritance/) with an estimated prevalence of ~1 in 3,000.  The most common associated complications are chronic lung disease, exocrine pancreatic insufficiency and male infertility.  It is estimated that ~1 in 20 to 1 in 25 of us are carriers of CF.  Being a carrier of CF is not expected to have any implications for your health, but it may have reproductive implications if both partners are found to carry CF variants.

Referral to Clinical Genetics:

We no longer see patients for CF carrier testing in the genetics clinic, unless there are additional concerns.  A couple who are both carriers of CF can be referred to Clinical Genetics if they are family planning and would like to discuss reproductive risks and options (e.g. preimplantation genetic testing and prenatal testing). If a patient has a family history of CF and is pregnant, they should be referred to Clinical Genetics to review their options.

Requesting CF Carrier Testing:

Non-genetic specialists (including GPs) can request CF carrier testing (5-10ml EDTA sample, sent to the Genetics lab).  It is imperative to state the name and details of the patient’s known affected relative. Further information on how to arrange carrier testing and interpretation of results can be found in this document – Cystic Fibrosis information sheet for GPs (link) or in the Scottish Genomic test directory ( NSD611-003.20-SSNGM-Test-Directory-Rare-Inherited-Disease-V5.pdf)

Genetic test request form can be found here: https://www.nhsggc.scot/downloads/routine-genetic-testing-request-form-2/. Alternatively, testing can be requested on Trakcare in ‘Lab – Adult’ using the request item ‘Germline molecular genetic analysis or storage’. Within the request, for ‘Testing Required’, select ‘Cystic Fibrosis/CFTR related condition’.  If ordering electronically please make sure to include the information about the relative known to be affected/a carrier as outlined above, as well as our reference/pedigree number if known.

Haemoglobinopathies are a group of inherited blood conditions caused by alterations in the genes that produce haemoglobin. Haemoglobin is the substance inside our red blood cells which picks up oxygen as blood passes through the lungs and carries it to the rest of the body. How an individual is affected by a haemoglobinopathy condition can vary, with some conditions causes mild to moderate anaemia and others causing significant health issues, such as sickle cell anaemia and beta thalassemia major. Typically haemoglobinopathies are inherited in an autosomal recessive pattern (https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/autosomal-recessive-inheritance/). Carriers of alterations in the haemoglobin genes are typically well and do not experience and health problems because of being a carrier.

Genetics clinic referrals:

We no longer see carriers of haemoglobinopathies in the genetics clinic, unless a couple are both carriers of a haemoglobinopathy and are family planning. These couples can be referred to Clinical Genetics to review their reproductive risks and options.

Requesting haemoglobinopathy screening:

Non-genetic specialists (including GPs) can request a haemoglobinopathy screen which is a haematological blood test that can determine haemoglobinopathy carrier status. Testing can be requested via TrakCare and a 4ml EDTA (purple topped) sample should be collected.

If a patient is found to be a carrier of a haemoglobinopathy condition and they are considering pregnancy testing should also be arranged for their partner. As above, carrier couples can be referred to Clinical Genetics.

Further information about haemoglobinopathies can be found at – https://www.gov.uk/government/publications/handbook-for-sickle-cell-and-thalassaemia-screening/understanding-haemoglobinopathies.

We do not routinely see patients for Haemochromatosis diagnostic or carrier testing in the genetics clinic, unless there are additional concerns.  Further useful information about the condition can be found via the NHS Conditions website: Haemochromatosis – NHS (www.nhs.uk)

Requesting genetic testing:

Non-genetic specialists (including GPs) can request haemochromatosis carrier testing (5-10ml EDTA sample, sent to Laboratory Genetics). Guidance for testing and management of Haemochromatosis have been produced by the British Society for Haematology (BSH).

Acceptance criteria must be met and stated on the request form (see  The Scottish Genomic test directory, NSD611-003.20-SSNGM-Test-Directory-Rare-Inherited-Disease-V5.pdf)

Genetic test request form can be found here: https://www.nhsggc.scot/downloads/routine-genetic-testing-request-form-2/

*Before requesting this test, please check clinical portal to ensure that the patient has not been tested before. The results of these genetic tests will not change over time, and so repetition is of no value.

Non-healthcare professionals are not permitted to request genetic testing.

Haemochromatosis is a common inherited condition that affects how the body absorbs iron from your diet. It is more common in those with Northern European ancestry. 

Individuals with hereditary haemochromatosis experience a slow build-up of iron in the body over a number of years. Too much iron in the body is known as iron overload.  The excess iron can be stored in organs and tissues and lead to symptoms such as fatigue, joint pain, abdominal pain, shortness of breath and weight loss.  The condition can also affect the organs in the body such as the pancreas and the liver, which can lead to diabetes, liver cirrhosis, arthritis, cardiac problems and skin discolouration.

Treatments can include iron monitoring, chelation therapy, venesection to remove blood and reduce iron levels and changes to diet and lifestyle.

The genetics of Hereditary Haemochromatosis

Haemochromatosis is caused by variants in a gene called HFE gene.  We all have two copies of this gene as we inherit one from each of our parents.  For an individual to be affected with hereditary haemochromatosis, they must have alterations on both copies of the HFE gene. Carriers have an alteration on only one of their copies of the HFE gene. Therefore, for an individual to be affected by the condition, both parents must be carriers.

When both parents are carriers of Hereditary Haemochromatosis, in every pregnancy there is a:

• 1 in 4 (25%) chance of having a baby who is not affected and not a carrier
• 2 in 4 (50%) chance of having a baby who is a healthy carrier
• 1 in 4 (25%) chance of having a baby who is affected by the condition

This is known as autosomal recessive inheritance.

Genetic testing for Hereditary Haemochromatosis 

Individuals who meet the testing criteria outlined the Scottish Genomic test directory (link can be found on the website) or who have a first-degree family member who is known to carry an HFE variant can have genetic testing arranged by non-genetics specialists (including GPs). Testing requires a 5-10ml EDTA sample sent to Laboratory Genetics with a genetic test request form (see website for link). Testing covers common alterations C282Y and H63D.

Genetic test results interpretation

No Variants detected

If a patient’s results showed they do not have the C282Y or H63D alterations in the HFE gene they are not likely to have hereditary haemochromatosis. We would not offer any further genetic testing or clinical follow up. If an individual is experiencing iron overload symptoms they should be investigated and treated as appropriate, but these are not likely to be caused by hereditary haemochromatosis.

Heterozygous for C282Y or H63D

If a patient has been found to be a carrier of HFE-related haemochromatosis they have an alteration on one copy of their HFE gene. Carriers of the condition are generally well and are unaffected with the condition. To be affected an individual must have genetic alterations on both their copies of the HFE gene, which leads to iron overload.

As carriers are generally well, they do not require any treatment or follow up therefore there is no further genetic testing that we would offer to your patient. If an individual is experiencing iron overload symptoms they should be investigated and treated as appropriate. However, these symptoms are not likely to be caused by HFE-carrier status.

Homozygous C282Y

Individuals who are found to be homozygous for the C282Y alteration in the HFE gene are generally affected by haemochromatosis and experience iron overload. Symptoms can be variable but generally include fatigue, joint paint, abdominal pain and weight loss. If left untreated it can lead to worsening symptoms including liver disease and diabetes. If an individual has raised iron levels, they should be referred to gastroenterology for management and follow up (see full management guidelines via link on website).

Compound Heterozygous C282Y/H63D

Individuals who are found to be compound heterozygous for the C282Y and H63D alterations in the HFE gene can experience iron overload. However, iron overload in these individuals happens at a slower rate than those homozygous for C282Y. Individuals can experience symptoms but are at a lower risk of serious complications such as organ failure. If ferritin and transferrin saturations levels are normal it is recommended that individuals have these check every 3 years. This can be done through the GP. If levels are raised individuals should be referred to Gastroenterology for management and follow up. 

Homozygous H63D

Individuals who are found to be homozygous for the H63D alteration in the HFE gene are unlikely to experience iron overload. Some individuals can experience iron overload and should have any symptoms investigated. This result does not confirm or exclude a diagnosis of haemochromatosis. If homozygous individuals do not have a raised iron level regular iron monitoring is not required. Genetic testing is not recommended for family members of homozygous individuals who do not have symptoms.

Implications for children

Testing Children – Carriers

If a patient is a carrier of haemochromatosis (heterozygous for H63D or C282Y) any children have a 1 in 2 (50%) chance of also being a carrier. Genetic testing can be carried out from the age of 16 via the GP practice. As mentioned, Carriers are generally well and do not experience any symptoms. If both parents are carriers there is a 1 in 4 (25%) chance any children will be affected. If any children are found to be affected, they should be referred to gastroenterology for follow up and management.

Testing Children – Affected

If a patient is affected with haemochromatosis any children that they have will be a carrier of the condition. This is because affected individuals have alterations in both copies of their HFE gene. We always pass on one copy of each of our genes to our children, so children of affected individuals will always inherit an altered copy of the HFE gene making them a carrier of haemochromatosis. If an affected individual’s partner is a carrier of haemochromatosis there is a 1 in 2 (50%) chance any children will be affected with the condition. Children can be tested from the age of 16 through their GP practice. If they are found to be affected, they should be referred to gastroenterology for management and follow up.

Implications for first degree family members

Parents and siblings of individuals who are carriers or affected by Hereditary Haemochromatosis can request genetic testing via their GP to clarify their carrier status. Partners of individuals who are affected or carriers can also seek testing via the GP. Results interpretation and management guidance as above.

Reproductive implications

If an individual is affected with Hereditary Haemochromatosis and their partner is a carrier, there is a 1 in 2 chance any children they have will be affected by the condition. If their partner is not a carrier any children, they have will all be carriers of the condition. Since Hereditary Haemochromatosis is an adult-onset condition with a number of management options genetic testing during pregnancy (prenatal testing) is unlikely to be offered. See above section about testing children.

If a couple are both carriers of Hereditary Haemochromatosis any children have a 1 in 4 chance of being affected and a 1 in 2 chance of being a carrier. As above prenatal testing is unlikely to be offered, and children can consider testing from the age of 16 via their GP.

Patient resources

Further information for patients can be found at the following links:

• Haemochromatosis UK – https://www.haemochromatosis.org.uk/
• NHS Inform – https://www.nhs.uk/conditions/haemochromatosis/
• Kings Collage Hospital NHS Foundation Trust – https://www.kch.nhs.uk/wp-content/uploads/2023/02/2952-Genetic-Haemochromatosis-v7.pdf

Reasonable adjustments are changes that organisations and people providing services must make if someone’s physical or mental disability puts them at a disadvantage compared with others who aren’t disabled (GOV.UK)

At the application stage of the programme for the student, the HEI will determine if a student is able to meet the requirements of the programme. That is, will they be able to satisfactorily achieve all NMC proficiencies, skills and procedures taking into account their disability and what, if any, reasonable adjustments can be put in place.

However it is important to note that students may only disclose or be aware that they require a reasonable adjustments once they have already started their training.

Students represent our diverse society and therefore equality and diversity needs for all students must be considered.

• Changing the recruitment process so a candidate can be considered for a job
• Doing things another way, such as allowing someone with social anxiety disorder to have their own desk instead of hot desking.
• Making physical changes to the workplace, like installing a ramp for a wheelchair user or audio-visual fire alarm for a deaf person.
• Letting a disabled person work somewhere else, such as on the ground floor for a wheelchair user.
• Changing their equipment, for instance providing a special keyboard if they have arthritis.

(Above examples provided by GOV.UK)

Equality Act 2010: Duty on employers to make reasonable adjustments for their staff

The general definition of disability for the purposes of the Equality Act 2010 is “a physical or mental impairment which has a substantial and long-term adverse effect on a person’s ability to carry out normal day-to day activities”. The Act defines long-term in this context as having lasted, or being likely to last for at least 12 months or the rest of the person’s life. Substantial is defined as more than minor or trivial.

• Student with dyslexia. One example could be a student that requires some extra time to complete documentation.
• Student with religious or cultural needs. One example could be a Muslim student who requests use of a private area to pray.
• Student with carer commitments. On example could be a student that has an elderly parent and has carer duties.
• Student with anxiety. One example could be a student that suffers from anxiety and finds delivering handovers particularly challenging.
• Student who requests flexible working due to childcare commitments. One example could be a single parent who struggles to work nightshift.

Please note that for such examples there are no hard and fast rules. Each request needs to be carefully considered at an individual level and impact on students learning or the areas ability to accommodate have to be carefully considered.

In the first instance your local PEF can support. If you are unsure of who your local PEF is, please check via the NHS GGC Practice Education website.

Link Academic Assessor for your area can also assist.

Students may have a RAP in place before starting their placement. This may have been part of their induction university or put in place during their course. Occasionally a pre placement meeting is required to discuss the student and their reasonable adjustments request.

There is also an opportunity to discuss at the Initial meeting with your student. This should take place within the first 48 hours of starting placement.

Please see the students Practice Education Document.

It is the student’s decision to disclose, however the NMC does recommend that students disclose.

If a student has not disclosed an individual learning requirement/disability and you have a concern about their knowledge or practice, you would follow the same process outlined in the Practice Learning Support Protocol to ensure a fair support and assessment to your students.

The advice would be to have a chat with your local PEF or CHEF.

This would be dependent on what the reasonable adjustment was. It is a good idea to have a learning development support plan in place and review throughout the placement. 

British Dyslexia Association 

Dyslexia Scotland 

National Wellbeing Hub 

Multi Faith Resource (TURAS log-in required)

The students can link in with their personal tutor to access support services offered by their university.

Reasonable adjustments can allow a student with an individual requirement to achieve a competency or meet a standard.  However professional standards and competencies must be maintained (NMC, 2019) 

It is the students decision and responsibility to disclose they have a specific learning need. 

The student can still fail even if they have reasonable adjustments in place if they don’t meet the required standard. There remains a duty to safeguard and protect the public. 

• Employers must deal with requests in a ‘reasonable manner’
• Examples of handling requests in a reasonable manner include:
  • Assessing the advantages and disadvantages of the application
  • discussing possible alternatives to the request
  • Offering an appeal process
• GOV.UK – Flexible Working

• Discuss with all students if they have any individual requirements
• Always seek advice from the University and or PEF if you are unsure how to best support a student​​
• Never lower the standard of competence required when implementing reasonable adjustments​​​ 
• Seek regular feedback on whether reasonable adjustments are meeting the needs of the student and record within student documentation​​
• Complete a fair assessment​