Genetics - general

Overview

Update 15.12.23 – The genetics service continues to be under stress due to staffing levels.It was hoped that the full service would be reinstated at the end of 2023 but Remedy has been advised that this is now not possible and we still have no date for a full re-opening of the service. We will update here with developments as and when they occur.

Referrals should continue to be made via the Clinical Genetics Referral Assessment Service (RAS) on eRS but may be returned with advice, due to capacity issues for outpatient appointments. We have been sent the following information from the Clinical Genetics Team at UHBW:

The Clinical Genetics Service are currently operating a criteria-led restricted access service and will only accept urgent and priority referrals until further notice. If there is a particular instance where there is a clinical priority, you can contact the consultant on call for urgent advice.

There may be instances when the Birmingham Genetic Service can be asked to see a patient, depending on their willingness to travel, but this is usually only after review by the local genetics team. Direct referrals from out of area may be returned.

Hospital specialist colleagues can access genomic testing directly via the National Genomic Test Directory (NGTD) and GPs can refer to these secondary-care specialists.  The Clinical Genetics Service will continue to offer advice and support regarding genetic management within specialist MDTs. 

If you are unable to access the required clinical genetics advice for your patient, having explored the above avenues, then please contact: ubh-tr.ClinicalGeneticsUHB@nhs.net

A full list of urgent and priority cases which will be seen is detailed in the Resources section below (2). Many of these are referrrals that will come from other hospital specialists. Those relevant to primary care referrers are:

• Where there is a known genetic diagnosis in the family, but only if the referral is accompanied by a genetic test report or the family is already know to the service or if the affected family member has  passed on a 'To Whom it May Concern' letter from their specialist.
• Patients with a new genetic diagnosis where discussion or counselling is required.
• Pregnant patients where there is a known or suspected genetic condition in the family
• Couples who have been investigated by fertility services and found to carry a significant structural chromosome rearrangement or where both partners are a carrier of Cystic Fibrosis (this is because they are highly likely to benefit from PGD referral and need Clinical Genetics referral following genetic counselling to access this).
• First degree relatives/next of kin or partner of sudden cardiac death (SCD) patients.

Monogenic Diabetes - please see the page in the Diabetes section.

Exclusions

Patients with the following conditions should not be referred to genetics:

• Hypermobility and Ehlers Danlos Syndrome unless dystrophic scarring and recurrent dislocation or a genetic mutation has been identified in the family - see Joint Hypermobility section of Remedy
• MTHFR.
• Haemochromatosis - consider referral to haematology. Please also see Guidelines for primary care.
• Familial Hyperlipidaemia (please refer to specialist lipid clinic at BRI, RUH or WGH).
• For discussion of results of private genetic testing, except in the unusual instances where evidence that the variants are pathogenic is provided.
• Relatives of patients with genetic cardiac conditions requiring heart checks should be referred to the local Inherited cardiac conditions team in the first instance –please only refer if a genetic mutation has been identified in a relative and please provide that information with the referral.
• Couples requesting carrier testing for reproductive purposes in which the population carrier frequency is less common than 1/70.
• We are in the process of developing guidance for alpha 1 antitrypsin and suxamethonium apnoea which will then also be outside criteria.
• Clotting disorders - consider referral to haematology. See Guidelines for primary care.

Referrals

The Clinical Genetics Department is based at St Michaels Hospital and offers genetic assessment, investigations, diagnosis and counselling

Please consider reviewing appropriate pathways in Remedy or using QGenome (1) before making a referral.

Referrals should be made via the Clinical Genetics Referral Assessment Service (RAS) on eRS. You can also request advice through this route (there is no formal A and G service on eRS).

Please include in your referral:
• the patient's history (including detailed family history where relevant and available).
• clinical findings
• any safeguarding concerns
• need for interpreter or other special needs if relevant
• if the patient you are referring is pregnant, please make this clear in your referral.

If you are referring a relative of a person who has a confirmed genetic diagnosis (or has been seen in genetics before), it is important to include the name, date of birth and hospital genetics number of the relative if this is possible. A copy of their recent genetic investigations would also be very helpful.  

Genetic testing is usually only possible in a person with the condition (where there is not a known genetic mutation in the family). Therefore, please only refer patients who have the condition for testing rather than patients who have a family history (unless otherwise indicated by existing pathways).

Once a referral has been received then it will be reviewed by the genetics team and it will be dealt with in one of the following ways:

• If the family history is already known or a family member has been seen in the genetics clinic previously then an appointment may be offered in the clinic.
• If further information is required, the patient may be contacted by a Genetic Counsellor, in order to obtain a family history (if not supplied) and  to discuss the condition and answer any questions the patient has regarding the referral. 
• If, after assessment, a clinic appointment is not necessary the team will provide advice by letter to the referring doctor or health care professional.
• If the patient has a family history of cancer, please see the Family History of Cancer page for more information about the referral process.

 Advice and Guidance

There is no separate Advice and Guidance service for genetics available on eRS and paper requests for advice will be rejected, so if advice is required then this can also be requested via the RAS on eRS as above.

For general enquiries you can contact the clinic coordinators on the Clinical Genetics telephone no. 0117 3425107 but they cannot discuss appropriateness of referrals or give specific advice so please use the RAS service as above if this is what is required.

Resources

(1) QGenome - QGenome

This site has been developed in the Southeast of England as a guide for genetics referrals and will be expanded to cover further regions. Local geneticists have advised that it can still be used as a general guide to referrals. A log in is required but is simple to set up. Once in the site then you can access the Primary Care Guidance section. This includes advice on the following areas:

• Cancers - Breast, Colorectal, Lung, Endometrial, Liver, Oesophogastric, Ovarian, Pancreatobiliary, Prostate.
• Cardiac - Sudden cardiac death ,Long QT syndrome. See also local pathways: Inherited Heart Conditions (Remedy BNSSG ICB)
• Aortopathies
• Familial Hypercholesterolaemia -  See also local pathways: Hyperlipidaemia (Remedy BNSSG ICB)
• Joint Hypermobility - See also local pathway: Hypermobility and EDS (Remedy BNSSG ICB)

(2) Clarification of urgent and priority cases which will be seen:

1. Prenatal referrals with multi-system foetal anomaly.
2. Acutely unwell NICU and PICU patient for R14.
3. Patients with new genetic diagnosis where discussion or counselling is required.
4. Patients with foetal loss where genetic investigation are indicated.
5. Pregnant patients where there is a known or suspected genetic condition in the family
6. RACC eligible patients - i.e. those with a new cancer diagnosis where genetic testing would aid management decisions and metastatic pr palliative cancer patients where DNA storage is indicated.
7. Couples who have been investigated by fertility services and found to carry a significant structural chromosome rearrangement or where both partners are a carrier of Cystic Fibrosis (this is because they are highly likely to benefit from PGD referral and need Clinical Genetics referral following genetic counselling to access this).
8. Patients who have learnt for the first time of a neurodegenerative condition in the family where they (or their children) are at direct risk, and this is resulting in high levels of anxiety and impacting their mental health.
9. Non-cancer patients at end of life where storage of a DNA sample could make significant difference to future genetic testing options for a family.
10. Where there is a known genetic diagnosis in the family, but only if the referral is accompanied by a To Whom It May Concern letter, a genetic test report or the family is already know to the service.
11. First degree relatives/next of kin or partner of sudden cardiac death (SCD) patients.

Efforts are made to ensure the accuracy and agreement of these guidelines, including any content uploaded, referred to or linked to from the system. However, BNSSG ICB cannot guarantee this. This guidance does not override the individual responsibility of healthcare professionals to make decisions appropriate to the circumstances of the individual patient, in consultation with the patient and/or guardian or carer, in accordance with the mental capacity act, and informed by the summary of product characteristics of any drugs they are considering. Practitioners are required to perform their duties in accordance with the law and their regulators and nothing in this guidance should be interpreted in a way that would be inconsistent with compliance with those duties.

Information provided through Remedy is continually updated so please be aware any printed copies may quickly become out of date.