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Helloooo Friend!
Hema Here!
Give me a Biggg Hi5!

                 Genetic conditions !!    I feel veryyy Scary :- (

This is one of the things we need to brush up just before our BIG day.

But the truth is as GPs we come across them very often.

I still remember…

How thrilled I felt when I saw my first Duchenne patient in my Surgery…
How I panicked to explain the risks for getting Downs Baby…

In CSA, it is important to remember that we are not going to teach the patient ALL about the condition.

But to facilitate their understanding, to explore their concerns, expectations, how it is affecting them etc.

It is important to acknowledge our limitations in the Genetic Knowledge.

To explain using simple terms – Keep It Simple and Clear!

Feel free to pester your Trainer, fellow GPs, Midwife, Nurses etc to get the right words to explain a genetic condition.

Let our patient lead our consultation.


I am sure You will certainly do your best with your real patients.

It is Tough on your BIG day!

So Practise, Practise, Practise!

Get the Patients’ agenda earlier

Tailor our explanations to their needs.

Guide them to relevant places like genetic counselling, websites etc.

The Genetic conditions for CSA we need to know for CSA according to our GP Curriculum –

In Autosomal Dominant,


2. NF

3. Huntingtons (scary case – different dimensions/angles – Must Practise)

4. Hypercholesterolemia –  (case to discuss blood results)

In Autosomal Recessive,

1. Cystic Fibrosis (Mum / Young man/ wife can come and ask about it)

2. Sickle Cell Disease/ TRAIT (Woman can come and ask about prenatal advice)

3. Thalassaemia Disease/ Trait.

4. Haemochromatosis ( relative can ask about their chance of getting HC)

In X linked Recessive,

1. Duchenne

2. Hemophilia A (common case)

In X linked Dominant, one and only case –  Fragile X syndrome.

In Chromosomal Abnormalities, You should know about

1.Downs -21 Trisomy

2. Turners – XO

3. Klinefelter – XXY

Down’s syndrome

Very Important – It  has many angles – prenatal, screening, explaining the risks, diagnosis, Options etc.

Practise, Practise, Practise.

Make your Trainers to show you….

We made our Programme Directors to sit on the Hot Seat…

Believe Me – IT WORKED!

Hearty Thanks to them!

You can see how cautiously they choose their words, tone of their voice, body language, use of silence, hesitancy etc…

Wowwww! Excellent!

I adore my Trainers!

The bitter Truth is –

It cannot be taught by words, from the Books…

You need to OBSERVE and Actively Listen…

Go through the leaflets,

You can get them from
your Practice Midwife,,

They have got videos from patients, families.

It is easy to understand their perspectives.

The MOST important things are

To Show Genuine Empathy.

To Give what they want.

To Acknowledge your knowledge limitation earlier on.

To be Neutral while giving informations…

It is easy to be drifted towards Doctor centred approach easily….

Do not pressurise yourself to make your Patient ‘Expert’ in Tennnn minutes….

To Your Success,

Hema xoxo.

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