Preparing for an appointment with a genetic counsellor
Seeing a healthcare provider can feel a bit daunting.
“What’s going to happen in the appointment? Will I need to get undressed? How many people will be there? What questions will they ask? Will they listen to me and help me to understand what’s going on with my health?”
I get it. I have these thoughts too. Interactions with healthcare providers can be awkward – explaining your bowel habits to a stranger isn’t on most people’s “fun things to do” list. It can also be scary – Is this the moment you find out you have an incurable illness? Some people might be fearful of interactions with healthcare providers because they haven’t been treated with respect and compassion in the past.
Anxiety can also be heightened when seeing a healthcare provider whose profession you know very little about, as is often the case with genetic counselling. I have put together this guide to hopefully help you feel more comfortable about meeting with a genetic counsellor in the future.
Helpful information to have before your appointment
Although people come to see a genetic counsellor for a range of different reasons, there is usually some information that most genetic counsellors will ask about during an appointment. It can be helpful to have thought through some of these questions and have information about your family at hand before your appointment.
- What brought you here today?
Knowing what motivates a person to seek genetic counselling and testing is helpful and is something most genetic counsellors will ask early on. It gives the genetic counsellor an idea of how you might have been impacted by a genetic condition in your family and how much you know already. It can give us clues about what information is likely to be most important for you, what some of your unique context might be, and areas that might be bringing you the most anxiety or uncertainty.
- What do you know about your family history?
Genetics is a family thing. Even if we don’t have a good relationship with our families, we can’t escape that we share our DNA with them. Genetic counsellors like to know what you know about your family so we can get an idea of what genetic conditions might be present. It gives us an idea of what you might understand already. Some families, for example, share a lot of their health information with each other, while others don’t share anything. Conversely, this question also gives us an idea of what you might not know, which is often very valuable – have you been adopted? Have you been estranged from your family? Is there information we will never be able to know about your family?
- Who is in your family, how old is everyone and how is their health?
Although very similar to question 2, question 3 is where a genetic counsellor might ask for more specific information about the people in your family. Genetic counsellors like to know about the structure of a family (how many children/siblings/cousins/aunts/uncles etc.) because this helps us to identify potential patterns or red flags for a possible genetic condition. Knowing how many males or females are in the family, how old people live to and what health issues have been present in a family gives us clues about a possible genetic diagnosis or inheritance pattern. This is particularly relevant for things like hereditary cancer, but can also be useful in many other situations. If you don’t know this information, that’s okay too. A genetic counsellor can help you to think about who might know more about the family history, and we can also make some assumptions based on the information that is missing.
- Has anyone in your family had a genetic condition diagnosed or undergone genetic testing?
This can give us some really important information about what genetic conditions may be present in the family, but also what genetic conditions may have been considered and excluded. If genetic testing has been conducted in a relative, particularly if a mutation has been found, a copy of the relative’s result (if they are happy to share it) will inform testing decisions for you. It can be a very helpful piece of information to have, and at times can be essential for ensuring that a genetic counsellor is able to give accurate advice about your risks. Nonetheless, genetic counsellors understand that this information is not always accessible and we can work around this to some extent.
What the appointment might be like
Every genetic counsellor will have their own style. In general, however, genetic counsellors aim for person-centred care (see here for more information). This means taking the direction from the client as to what is most important to cover in an appointment together. There are, nonetheless, several things that a genetic counsellor must cover in a session to ensure they have done their job adequately.
Introductions
Most genetic counsellors will begin an appointment by introducing themselves and having a short chat just to break the ice and help everyone feel comfortable. This might include asking some questions about how you are feeling, or for an explanation in your own words of why you are seeking genetic counselling. A genetic counsellor may also lay out their expectations for the appointment – the things they need to cover. This is usually a collaborative relationship where the genetic counsellor will also ask you what your expectations are for the appointment, so you can work together to achieve both of your goals.
Body of the appointment
This is where all the work of the appointment is done. The role of the genetic counsellor is to ask you about the information they need to carry out a genetic assessment. This may include asking about your personal health history, and the health history of your family members. Sometimes, a genetic counsellor may need to know about your mental health, support systems, how you deal with stress, your decision-making process and your values/beliefs. This information can help a genetic counsellor work with you to identify how a genetic result may impact you and how you may cope. It also highlights areas where additional support may be needed to ensure the best outcome for you.
Secondly, a genetic counsellor’s role involves providing you with the information you need to feel informed about your own genetic risk, testing options, testing implications and limitations and other relevant options available to you. The genetic counsellor may ask you questions about what you understand already, but it is important that you feel you are able to ask as many questions as you need to so you understand the information you are being given. At times, the information can be big and heavy and hard to take in. It is okay to ask for a break. Sometimes another appointment on a different day can be helpful.
Finally, there are often decisions to be made towards the end of an appointment with a genetic counsellor. These may include deciding whether to undergo genetic testing, whether to proceed with testing a pregnancy, or whether testing isn’t the right thing for you now. These decisions are yours to make, but a genetic counsellor will help you think through different scenarios so you can make the decision that is right for you.
Wrapping things up
Towards the end of the appointment, the genetic counsellor will have worked with you to decide what the next steps are. This might include going ahead with some genetic testing. In which case, there will be some forms to complete and a practical discussion about how to go about getting your sample taken, when results are expected and how they will be given to you. Sometimes there is no testing planned, and the genetic counsellor may instead discuss referring you to an appropriate specialist, or they may make a plan to be in touch with you again at a mutually agreed time in the future. Whatever the outcome of the appointment, the goal is that you understand what the plan is going forward. If you are not sure what is supposed to happen after your appointment, let the genetic counsellor know.
Things to think about after an appointment
People can feel a mixture of emotions throughout an appointment with a genetic counsellor. Talking about family relationships, illness, death, uncertainty, disease risk or the future with someone you don’t know can leave people feeling drained, vulnerable, anxious, angry,…These feelings can be multiple and complex, but they are also normal. Sometimes a person leaving an appointment with a genetic counsellor might feel empowered and informed and have a sense of control over their future health. These feelings are also normal. It can be helpful to take some time to think about the appointment you have had and how it has left you feeling. Some people may need to take some time out to let their feelings settle a bit before heading back into their day. Others may want to talk with a friend or family member and debrief. Still others may prefer to think about it later, or go for a run. Whatever kind of person you are, it’s a good idea to make time for yourself to think about how you are feeling.
In some cases, people leave an appointment with a genetic counsellor wanting to take some more time to think about their options before making a decision. This is something genetic counsellors are very supportive of. Once testing is undertaken, and results are available, any knew knowledge gained (good or bad) can’t be put back. Feeling confident in your decision is really important. People also change their minds too. If you feel unsure about your decision later, reach out to your genetic counsellor and let them know that you need some time.
If genetic testing is going ahead, then results will usually take a while to be available. It can be helpful to think about what you might do to take your mind off the results while you wait. You might also like to think about who you will tell about the testing, and whether you will share your results with anyone. If you have planned how you will receive your results with your genetic counsellor, you might like to think about who (if anyone) will be with you when you get the results and what you might do on results day.
Disclaimers
Clinical examination
Genetic counsellors are not medical doctors. This means we do not conduct physical examinations. A genetic counsellor should not require you to take any clothes off. However, genetic counsellors work closely with genetic doctors and there are instances where a doctor may also attend the appointment. In these cases, an examination may be indicated to help determine whether there are any physical signs of a possible genetic condition. Rarely, a genetic counsellor may ask to take some measurements, such as head circumference. It is important that you feel comfortable. Please ask for more information about why an examination is being requested if you feel unsure. You are also allowed to decline an examination or request to have a support person with you.
Confidential
Client/patient confidentiality is adhered to in the genetic counselling profession. In order to feel safe talking about yourself and your personal experiences with a healthcare professional, you need to be sure that the information you share will not be shared with anyone else, unless you have consented to it.
Genetic counsellors participate in peer supervision, which means that we draw on the support of our colleagues to ensure we provide the best care we can to our clients. This means that details of a case may be discussed with colleagues. This will be done in a way that retains client anonymity.
We are also required to practice under the supervision of a genetic doctor who is responsible for checking results of genetic testing and ensuring any medical advice we give is accurate. Your case may therefore be discussed with a genetic doctor. This should be disclosed to you during your engagement with a genetic counselling and testing service.
Voluntary
It is your choice whether you engage with genetic counselling and testing. It is important that you understand that everything that is discussed or requested during an appointment with a genetic counsellor is voluntary – you can give or withdraw your permission at any time. If you feel you are being pressured to do or say anything that you do not wish to, please raise this with the genetic counsellor, their manager or department head.
To make a formal complaint, follow the channels outlined by the hospital they are employed by, or if you are seeing a genetic counsellor in Australasia, you can go to this page to make a complaint through the Human Genetic Society of Australasia.
Informed consent
Informed consent refers to you giving permission for something that you feel you adequately understand. This is an essential part of genetic counselling and is required before a genetic counsellor can proceed with any planned action, whether that is testing, referral or declining testing. Part of the responsibility lies with the genetic counsellor to ensure you are given all the information you require, in a way you can understand it, for you to make an informed choice. Some of the responsibility, however, also lies with you to ask for clarification if you feel uncertain about anything that has been discussed. Please feel free to ask any questions you might have during your interactions with a genetic counsellor.
Summary
Heading into an appointment with a genetic counsellor can bring up a range of different feelings. Their job is to make sure you feel you have the tools you need to understand a genetic condition in you or your family, feel confident about decisions you make regarding your own health and that you feel supported and can access the support you may need. A genetic counsellor is likely to ask you a lot of questions about yourself and your family so we can complete a genetic assessment and support you to achieve the outcome you are looking for. Sometimes the process of seeing a genetic counsellor can involve a lot of vulnerability. It is your journey, however, and nothing should occur in an appointment with a genetic counsellor without your permission.
I hope this guide helps you to feel more confident about going into an appointment with a genetic counsellor in the future.
If you know you are at risk of a genetic condition, are concerned about your family history or potential risks for your children or are curious about doing genetic testing, please feel free to reach out to me to book an appointment.
Looking for more information?
Here are some websites that may be useful.
Human Genetics Society of Australasia Home (hgsa.org.au)
Genetic Health Service NZ Home | Genetic Health Service NZ
Centre for Genetics Education Welcome — Centre for Genetics Education – Welcome – Centre for Genetics Education