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Genetic counsellor’s point of view

Hear Emily Dixon, Genetic Counsellor, talk about making good referrals to clinical genetics teams and involving patients in their decisions
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To refer or not to refer really is the key question, both from the clinical and patient perspective. I would say we sometimes see patients with a clinic who did not want a referral. More often though is that they’re not sure what the referral is for. Additionally, we can receive referrals that are not suitable for appointment with the genetic service. All of these can either delay or impact patient care. I think it is important to consider this each time you see a patient and it can help ensure you always have the patient’s best interest in mind and provide them with the best clinical care.
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Referrals should always be discussed with the patient before they’re made in the context of whether they would like to be seen by a genetic service. It would be important to discuss with the patient that a referral does not necessarily mean, or even guarantee, genetic testing, but an opportunity to discuss the genetic information and the possible options available to them. Additionally referrals can be made to help the patient understand why they or their children are unlikely to inherit the genetic condition in the family. Patients can choose not to be seen, but would always be available to be referred at a later date if they changed their mind.
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When making a referral my three top tips are to make it concise, detailed, and relevant. Providing the genetic service with as much information in advance will ensure that the patient’s transition to the genetic service is as smooth as possible and that the relevant information is available to them in a timely manner. Alongside the family history, often it is also helpful to provide information regarding the pregnancy, including whether data scans have been arranged. It can be easy to think that a family history of a condition automatically suggests a strong underlying genetic cause, and while their may be some truth to this, not every condition can be tested for.
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Often patients will tell you everything that runs in the family with examples including asthma and allergies. But these often are a result of multiple factors and would not currently warrant a referral to genetics. If you are ever unsure whether a condition is suitable for a referral you can always look at helpful websites that can inform you if the condition is genetic. But as a genetic counsellor, I would always welcome questions of midwives and nurses if they were uncertain as to what to refer.
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I would recommend that you check that your local trust has its own pathway in place for referring patients to a clinical genetic service as it’s good practise to be aware of these pathways. Additionally, you may want to find out the links to your local genetics service for advice and support. Often the clinical genetics team would be more than happy to discuss any queries you might have before making a referral as this can often save time for everyone in the long run. I feel that building these professional relationships is beneficial for everyone involved and allows for the sharing of information. And I’ve certainly asked midwives questions regarding the pregnancy pathway and to help with my own practise.

In this video, course educator Emily talks about making a referral to the clinical genetics team and the importance of involving patients in these decisions.

She explains about always having the patients’ best interest first and knowing why you are referring so that you do not delay the process. It is always important that the referral is discussed with the patient and they should be involved in this decision.

The three top tips for making a referral are:

  • Make it concise
  • Detailed
  • Relevant

This makes the process as smooth as possible. However, not all diseases or conditions are testable.

Activity

It is always helpful to know if your local genetics service has a referral form and pathway for prenatal cases. If there isn’t a form, perhaps consider designing one with your team to help you with making your referrals.

If you do not work in healthcare why don’t you have a look and see if there is any national guidance on who should be referred to a genetics team pre and during pregnancy and share what you have found with your learner colleagues?

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Genetic Inheritance for the Pregnancy Pathway: A Practical Guide for Clinicians

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