Transcript genetics by jude hayward

Genetics in Primary
Care
Dr. Jude Hayward
GPwSI in Genetics, YRGS
Dr. Brooke & Ptrs, Bradford.
The Genetics Explosion:
‘Cancer: 'How I beat my DNA timebomb’’
‘'Designer baby' to be free from breast cancer:
A British woman has made history by conceiving
the country's first "designer baby"
guaranteed to be free from hereditary breast cancer.’
‘GM food needed to avert global crisis, says Government adviser’
‘New DNA profiling technology could tell police
who suspects are in under an hour:
QuickTime™ and a
TIFF (Uncompressed) decompressor
are needed to see this picture.
A new portable device that can identify suspects in less than
an hour using DNA left at the scene of a crime is set to
transform the way police track down criminals.’
What does Genetics mean to you?
Tricky
 Dry
 Highly Specialised – sometimes the
patients know more than you do
 Interesting challenge
 Difficult to explain to patients
 The murky quagmire you don’t want to
enter….

What does ‘genetics’ mean to you?
Craniofaciocutaneous Syndrome
Mental retardation
ASD / HOCM
Icthyosis
Sparse Hair
High Forehead
Prominent ears
Depressed nasal bridge
Family History – why do we do it?

Think of the patient you most recently
asked for a family history – what was the
situation / presenting problem?

What did you do with that information?
Family History – why do we do it?




To aid with accurate risk assessment - likelihood
of developing a certain disease
To identify those who have an underlying
genetic condition who would benefit from further
information and services
To identify other members of the family who may
be at risk
This leads to appropriate management
strategies
Role of Primary Health Care Team
(RCGP)
General Practitioners have a key role in
identifying patients and families who would
benefit from being referred to appropriate
specialist genetic services
 Management and support of families with /
at risk of genetic conditions
 Consideration of FH in multi-factorial
disease e.g. cancer, DM, CHD
 Communication of Genetic Information

What would you like
to know?
Objectives for today’s session
Through discussion of cases:
 To outline the scope of genetic issues in primary care
 To discuss some common presentations of patients with
genetic issues
 To identify some useful guidelines and resources for
clinicians
 To identify useful resources for patients
 To touch on basic genetics / inheritance patterns
 To outline the structure of services providing care to
patients with genetic issues
 To encourage ‘thinking Genetics’ where you might not
have done before!
Scope of Genetics in Primary Care

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
10% of consultations have genetic aspect
Mostly multifactorial disease with genetic
component e.g. CHD, asthma, Alzheimer's,
diabetes
Single gene disorders e.g. CF, Huntingdon’s,
Reproductive issues e.g. Hbopathies
(Genomic Medicine)
(Pharmacogenetics)
Multifactorial Inheritance
Increased risk
on basis of
Family History
Environmental factors
‘nurture’
Autosomally
inherited /
Single/gene
Condition
Genetic Factors
‘nature’
A typical morning
surgery…
A ‘typical’ morning surgery…



Mrs. B, aged 52, attends for a blood pressure
check as she has had 2 raised readings over the
last few months.
Today it is 152 / 96. She says she’s not
surprised it is raised as she has just heard that
her sister has been diagnosed with ovarian
cancer – this has come as a shock as she has
been supporting her other sister through a
course of chemotherapy for breast cancer.
What else would you ask?
Cancer is common
1 in 3-4
Of the general population will develop cancer
during their lifetime




Breast cancer: 1 in 8 women
Ovarian cancer: 1 in 50 women
Bowel cancer: 1 in 18 men, 1 in 20 women
Incidence increases with age (risk factor)
Multifactorial Inheritance
Increased risk
on basis of
Family History
Environmental factors
‘nurture’
Autosomally
inherited /
Single/gene
Condition
Genetic Factors
‘nature’
Hereditary Cancer Syndromes

1 in 20 cases of breast, ovarian, CRC cancer are the
result of an underlying hereditary cancer syndrome.

Breast/ovarian cancer syndromes: BRCA 1 + 2



Breast (80% lifetime risk), Ovarian (40% lifetime risk)
Ass. cancers: Male Breast Cancer, Prostate Cancer, Certain
melanomas, association with CML / renal cell carcinoma
Colorectal cancer syndromes: FAP / HNPCC


CRC: FAP (100% lifetime risk) HNPCC (80% risk in males)
HNPCC associated cancers: ovarian, endometrial, gastric,
biliary, urinary tract
Autosomal Dominant Inheritance
Family history…

Who affected (maternal and paternal sides)
How many relatives affected
Cancer type
Age at diagnosis
Other risk factors (e.g. smoking)

She tells you that her:




 Sister:
breast cancer aged 52
 Sister: ovarian cancer aged 48
 Father’s sister: breast cancer aged 61
Risk assessment

Familial Cancer: Primary Care Management of patients at risk of
breast, ovarian or colorectal cancer (Watch this Space!!)
Based on NICE and BSG guidelines

OPERA – tool for patients via MacMillan website

The future!


User-friendly family history tool linked to risk calculator in Primary Care
Systems
 Use of google health - on-line family history questionnaires which can
be accessed by health care professionals
Useful information to include in
referral:
Usual personal details
 Whatever family history available
 Pedigree number / Name(s) of affected
family members if seen by any genetics
team
 (Pregnant or non-pregnant)

Genetic Services



Yorkshire Regional Genetic Service - very accessible!
(based at CAH: switchboard 0113 243 2799)
Covers Yorkshire and Humberside

Medical Staff: Consultants, Registrars, GPwSI


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
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Counselling and diagnostic role
Sub-specialise
Cancer Genetics Team: Geneticist, Oncologist, GPwSI
Genetic Counsellors - counselling role
Family History Administrators - collate info
DNA / Cytology labs - testing and research
What happens when a referral is
made?
Referral received
(can be via secondary care)
Questionnaire
Information collated by Family History Administrators
Consultants/ GPwSI review Questionnaire
Triage to Genetic Counsellor / Consultant / GPwSI
Genetic Counselling (Peter Rose)

Information gathering:

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Information provision:

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Discuss family history
Identify patient concerns / wishes
Explain risks and genetic contribution
Discuss screening if appropriate
Preventative measures
Discuss tests if appropriate
Decision making:


Guide patient through difficult choices
Institute management which patient chooses
Genetic Counselling
is NON-DIRECTIVE
 and NON-JUDGEMENTAL
 Doesn’t always result in a test!

 ‘Genetic Counselling is the process by which patients or
relatives at risk of a disorder which may be hereditary
are advised of the consequences of the disorder, the
probability of developing or transmitting it and the ways
in which this may be prevented or avoided’
Familial / hereditary cancer

Population risk:
 should
be reassured
and managed in
Primary Care

Moderate risk (i.e. above
population risk):



Can be managed in
secondary care
Additional screening
(annual mammogram from
40)
NBSP
‘Typical’ patient no. 1 – Mrs. B


High risk for breast and ovarian cancer
Offered screening:



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Offered risk-reducing measures:

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Additional mammograms from age 40
MRI if mutation carrier or at 50% risk
Ovarian screening likely to be proven ineffective
Prophylactic Bilateral Mastectomy
Prophylactic Bilateral Oophorectomy
Offered testing:

Given information and testing of affected relative discussed

Prophylactic Tamoxifen…
To test or not to test…



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Can inform risk
Can reduce uncertainty
May reassure
May indicate if at risk of linked
cancers - improve vigilance
May alter access to screening
Can be used as a decision aid
re prophylactic surgery
Can allow access to testing for
unaffected family members –
PREDICTIVE TESTING

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Cannot always give definitive
result
Cannot predict whether
someone will or won’t get
cancer
Cannot predict when or how
cancer may present
Psychosocial consequences
May not be needed to access
screening / surgery
May have implications for
insurance applications
A ‘typical’ morning surgery…
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
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Mrs T. attends, and after telling you about her athlete’s
foot she bursts into tears and tells you her mother has
just been diagnosed with cancer – ‘everyone in the
family has it and I’m bound to get it’
What else do you ask?
She tells you:




Mother had breast cancer aged 64
Sister had cervical cancer in her 30’s
Paternal grandfather had prostate cancer and died in his 80’s
Her uncle developed lung cancer in his 60’s – he had been a
heavy smoker all his life
Role of Primary Care (NICE 2006)
Women at or near population risk should
be cared for in Primary Care
 They should receive standard information
(see box in PACE Guidelines)
 ‘Be Breast Aware’ (NHS Breast Screening
Programme and Cancer Research UK)
 ‘Are you worried about Breast Cancer?’
(www.macmillan.org.uk/cancerinformation)

Communication…
How would you try to reassure her that she
wasn’t at any greater risk than the rest of
the population?
Contraceptive / HRT issues

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COCP: breast ca risk similar in those with or
without family history (NICE, UKMEC 1)
Reduced ovarian ca risk but not an indication
BRCA1 mutation: 20% risk in ever use of COCP
Preferable to use non-hormonal methods, or PO
with lowest systemic dose (i.e POP/IUS)
HRT: breast ca risk similar in those with or
without family history (Million Women Study)
Aled
Maud
CRC@58
Sian
Huw
Browyn
CRC@57
CRC@54
50
Aled
Olwen
Dai
Wynn
Tom
37
34
34
33
29
John
Died young
?renal Ca
Jenny
40
Jane
20
Margaret
Renal Ca@42
Roy
Renal Ca@50
John
38
Richard Mark
35
33
Julian Becky Lily
18
16
13
Pat
58
Judith
30
28
Other resources for patients
www.macmillan.org.uk/cancerinformation
 0808 808 0000
 www.cancerhelp.org.uk
 www.cctrust.org.uk
 020 7704 1137
 http://www.macmillan.org.uk/Get_Support/
Cancer_types/Genetic_risk_factors.aspx
 Can access OPERA via macmillan
website

The story so far…
Our job is to identify the 1 in 20 patients
with cancer (and their relatives) with a
genetic basis (those in the red blob)
 PACE guidelines can help
 Genetic testing is only one aspect of
management – also comprises information
giving, extra screening, risk-reducing
surgery.

A typical morning
surgery…
Miss T:
A 34-year-old lady with a history of
depression comes to see you. Her sister
died very suddenly 2 weeks ago at the age
of 42.
 She also happens to be your patient, and
when you look in her notes, the cause of
death from PM is Myocardial Infarction

Familial Hypercholesterolaemia
1 in 500 people have Familial
Hypercholesterolaemia
 50% CVD risk by the age of 50 in men
 30% CVD risk by the age of 60 in women
 110,000 cases in the U.K.
 Only around 10,000 identified so far

When to think about it: Simon
Broome Diagnostic Criteria


TC >7.5, LDL >4.9 AND
Definite FH:
 Tendon

xanthomas in 1st or 2nd degree relative
Possible FH:
 Family
history of IHD <60 y.o.a. in 1st degree relative,
and <50 y.o.a. in 2nd degree relative
 Family history of TC >7.5 in 1st or 2nd degree relative
Cholesterol deposition in patients heterozygous for familial hypercholesterolemia.
(a, b) Tendon xanthomata, and (c) corneal arcus.
Fig. Disease box 11 ©Scion Publishing
Ltd
Photos courtesy of Dr Paul Durrington.
How to manage it:



Manage other risk factors
Aggressively control cholesterol to lower LDL
<50% level at initial measurement (treatment
algorithm in NICE guidelines)
If not controlled with 2 agents, refer:
 Donald
Whitelaw (Diabetes Consultant, BRI)
 Andy Pettit (Diabetes Consultant, AGH)
 Julian Barth / Mike Mansfield (Lipid clinic, LGI)

Assess for symptoms of IHD
What about the Genetics?
Autosomal Dominant
 Mutation in LDL receptor gene
 Cascade screening.
 Genotyping not widely available
 Role of primary care?

The story so far…
If someone has a family history of
premature heart disease
 or presents with a cholesterol over 7.5:


Think Familial Hypercholesterolaemia
Other inherited cardiac conditions
Specialist clinic at LGI
 FH of sudden cardiac death
 FH of arrythmia, cardiomyopathy or
connective tissue disease
 Can refer directly
 Any queries: Kath Ashcroft

 0113
3925784 or mobile 07789003997
A typical morning
surgery…
A ‘typical’ morning surgery…
A 36-year-old man comes in ‘tired all the
time’. He has several non-specific
symptoms including palpitations and
general aches, and you are aware he is
having a stressful time at work.
 He is concerned, and asks you to do some
blood tests.

Hereditary haemochromatosis


High index of suspicion in younger men who present TATT.
Autosomal recessive disorders, carrier rate 1/8 – 1/10,
prevalence 1/200 – 1/400.

Signs, Symptoms and Complications:
 Non-specific – tatt, joint pain, weight loss, (impotence)
 Liver disease
 Diabetes
 Hypogonadotrophic hypognadism
 Arthritis
 Cardiac Disease (heart failure)

Venesection improves life expectancy - normal if before
development of diabetes and liver cirrhosis
Hereditary haemochromatosis


His ferritin came back as 458. What would
you do next?
Diagnosis:
 Ferritin:
will be raised once iron overload occurring.
Can also be raised in acute phase response
 If ferritin high, or high index of suspicion consider
checking Fasting Transferrin (earliest marker of HH)
 If transferrin > 45%, refer to haematologist
 Generally, females >50%, males >55%
Hereditary Haemochromatosis

Genetics:
2
mutations responsible for >95% in U.K.
 Many people who inherit the mutations will not
develop clinical disease.
 Genetics dept will offer gene testing /
genotyping to 1st degree relatives only.
A typical morning
surgery…
Mr. S, patient no 4.

A 46-year-old gentleman comes in, and
places a report in front of you. It lists his
lifetime risk of many common conditions,
but he is particularly concerned about his
45% lifetime risk of atrial fibrillation.
Genomics
Testing the ‘whole’ genome
 Population-based studies identify variants
which have increased frequency in
individuals who have a particular condition
 No assumption re mode of inheritance
 No prior knowledge of molecular
mechanism needed
 Detect genetic mutation with small effect
 Research: map loci / possible mechanisms

Susceptibility loci
The position of these variants is then
mapped to a particular locus –
‘susceptibility loci’
 Increase likelihood of developing a
particular condition
 But aren’t necessary or sufficient

Personalised medicine?
Limited applications – but its coming!
 Pharmacogenetics (azathioprine)
 Tumour profiling (Herceptin)
 Potentially used to increase risk
stratification e.g. breast / prostate ca
screening
 Phenotypic data still better predictors

How would you manage Mr. S?
Manage risk factors
 Manage concerns
 ELSI implications
 Genetic fatalism or change in behaviour?

Other examples!
A 24-year-old man who is diagnosed with
Type 2 Diabetes. He has a normal BMI, is
caucasian, and has no family history.
 A 59-year-old man who is caring for his
wife who has just been diagnosed at 57
with early onset Alzheimer’s. Her mother
also had dementia of some sort.

Time for tea!
Pedigree Symbols
Male
Marriage / Partnership
(horizontal line)
Female
/
Partnership that has
ended
Person whose sex is
unknown
P
Offspring (vertical line)
Pregnancy
Miscarriage
X weeks
Affected Male & Female
Carrier Male & Female
Supporting Genetics Education for Health
www.geneticseducation.nhs.uk
Parents and Siblings
Family History


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Jane (28) is 6 weeks pregnant
Jane’s husband Christopher (29) is an only child
His parents William (60) and Margaret (59) are alive
and well
Jane has one brother John (34), he had one son
David (10) to his first wife Alice (33). Their marriage
ended in divorce
John’s second wife Christine (29) had a miscarriage at
9 weeks and a son Richard (4) who has CF
Jane’s father George Whitehead died at the age of 66
Jane’s mother Joan (64) is alive and well
Supporting Genetics Education for Health
www.geneticseducation.nhs.uk
Joan
William Hobson
60
Margaret George Whitehead
Died age 66
59
Christopher Hobson
29
Jane
28
Joan
64
Alice
33
John Whitehead
34
P
6 weeks
Christine
29
9 weeks
David
10
Assume Jane was tested and found to be a carrier.
Richard
4
Cystic fibrosis
What is the probability that the baby in Jane and Christopher
Hobson’s current pregnancy will have cystic fibrosis?
(Population risk of being
CF carrier for people with North European
Supporting Genetics Education for Health
www.geneticseducation.nhs.uk
ancestry = 1 in 25)
This is the slide to remember!


Our role is identify patients at risk or who may have a
genetic condition and would benefit from input from
Genetic Services
We do this by taking and using a family history – core
examples:



A common multifactorial disease (e.g. IHD or cancer) occurring
young, strong family history, atypical presentation
Early pregnancy, or even pre-conceptually
There is lots of information out there regarding individual
conditions
www.geneticseducation.nhs.uk
Supporting Genetics Education for Health
www.geneticseducation.nhs.uk
Resources:







Me! [email protected]
YGS via LGI switchboard: 0113 243 2799
www.gpnotebook.com
www.geneticseducation.nhs.uk
‘Recognising the common patterns of
inheritance in families’
www.library.nhs.uk/genepool
www.chime.ucl.ac.uk (apogi sheets
Resources for patients
www.geneticalliance.org.uk
SWANUK
[email protected]
 www.cafamily.org.uk
Support for families in which there is a rare
genetic disorder
Thank you!
Any questions?
Family History

Jane has one brother John (34)

Jane and John’s father George Whitehead
died at the age of 66

Jane and John’s mother Joan (64) is alive and
well
Supporting Genetics
Education for Health
www.geneticseducation.nhs.
uk
William Hobson
60
Margaret
59
Christopher Hobson
29
Jane
28
P
6 weeks
Supporting Genetics
Education for Health
www.geneticseducation.nhs.
uk
George Whitehead
Died age 66
Joan
64
John Whitehead
34
Family History

Jane’s brother John has one son David (10)
to his first wife Alice (33).

Their marriage ended in divorce
Supporting Genetics
Education for Health
www.geneticseducation.nhs.
uk
William Hobson
60
Margaret
59
Christopher Hobson
29
Joan
64
George Whitehead
Died age 66
Jane
28
Alice
33
John Whitehead
34
P
6 weeks
Supporting Genetics
Education for Health
www.geneticseducation.nhs.
uk
David
10
Family History

John’s second wife is Christine (29)

Christine had a miscarriage at 9 weeks

They then had a son Richard (4) who has
cystic fibrosis
Supporting Genetics
Education for Health
www.geneticseducation.nhs.
uk
William Hobson
60
Margaret
59
Christopher Hobson
29
Joan
64
George Whitehead
Died age 66
Jane
28
Alice
33
John Whitehead
34
P
6 weeks
Supporting Genetics
Education for Health
www.geneticseducation.nhs.
uk
Christine
29
9 weeks
David
10
Richard
4
Cystic Fibrosis
William Hobson
60
Margaret
59
Christopher Hobson
29
George Whitehead
Died age 66
Jane
28
Joan
64
Alice
33
John Whitehead
34
P
6 weeks
Christine
29
9 weeks
David
10
Richard
4
Cystic fibrosis
From the family pattern, who must be carriers for
cystic
Supporting
Genetics fibrosis?
Education for Health
www.geneticseducation.nhs.
uk
Supporting Genetics
Education for Health
www.geneticseducation.nhs.
uk
William Hobson
60
Margaret
59
George Whitehead
Died age 66
Christopher Hobson
29
Jane
28
Joan
64
Alice
33
John Whitehead
34
Christine
29
or
P
9 weeks
6 weeks
David
10
Richard
4
Cystic fibrosis
Is the probability of Jane Hobson being a carrier
for cystic fibrosis sufficiently high to offer testing?
Supporting Genetics
Education for Health
www.geneticseducation.nhs.
uk
Supporting Genetics Education for Health
www.geneticseducation.nhs.uk
Joan
William Hobson
60
Margaret George Whitehead
Died age 66
59
Christopher Hobson
29
Jane
28
Joan
64
Alice
33
John Whitehead
34
P
6 weeks
Christine
29
9 weeks
David
10
Assume Jane was tested and found to be a carrier.
Richard
4
Cystic fibrosis
What is the probability that the baby in Jane and Christopher
Hobson’s current pregnancy will have cystic fibrosis?
Supporting Genetics
Education(Population
for Health
risk of being CF carrier for people with North European
www.geneticseducation.nhs.
ancestry = 1 in 25)
uk
Jane’s risk
of being a
carrier
1
X
X
Christopher’s
risk of being
a carrier
1
25
X
X
Chance of
passing on two
copies of gene
change for CF
1
4
Supporting Genetics Education for Health
www.geneticseducation.nhs.uk
=
=
Risk of baby
being affected
by CF
1
100
Joan
William Hobson
60
Margaret George Whitehead
Died age 66
59
Christopher Hobson
29
Jane
28
Joan
64
Alice
33
John Whitehead
34
P
6 weeks
9 weeks
David
10
When should Genetic advice be sought?
Which other family members should be offered
carrier status testing?
Supporting Genetics
Education for Health
www.geneticseducation.nhs.
uk
Christine
29
Richard
4
Cystic fibrosis
Consanguineous
Marriage
What is Consanguinity
WHO defines consanguineous marriage
as one between individuals who are
second cousins or more closely related.
 Consanguinity comes from the Latin
words: con meaning shared and sanguis
meaning blood.

The global distribution of
consanguineous marriage
History of
Consanguineous
Marriage in
Europe

Consanguineous
marriage was
prevalent until the
20th century, and was
associated with
royalty and landowning families
Brain Storm!

What are the perceived benefits and
disadvantages of cousin marriages?
Perceived benefits of cousin
marriages
Keeping property and money within a
family
 Staying within a well understood family
unit
 Improving the position of women by
reducing the chances of mistreatment from
a husband bound by family ties.

Perceived Disadvantages of cousin
marriages
Risk of genetic conditions in offspring
 Anxiety about social stigma
 Difficulty living an autonomous married life
separate from the wider family

Why is there an offspring risk
associated with consanguinity?





When gametes formed, a few alterations in the DNA
code will occur – usually result in healthy carrier state.
Only when two people who carry the same alteration /
mutation reproduce is there an increased chance of
autosomal recessive disease
This occurs in conditions with a higher carrier rate in the
general population, people of similar ethnicity, and
people who are related
A related couple are more likely to have an alteration in
the same gene because they have both inherited some
of their genes from their shared relatives. In the case of
first cousins, both of them could have inherited the same
changed gene from one of the grandparents that they
share.
Consanguineous couples are therefore at increased risk
Autosomal Recessive Inheritance
Risk Of Having a Child with Severe Congenital or
Genetic Disorder Diagnosed by 1 yr of Age
 Unrelated
parents 2-3%
 First cousins 4-5%
 Second cousin 3-4%
 Double first cousins 6-7%
 BUT also increased with maternal age,
smoking, drinking, drugs, poor nutrition, poor
obstetric/healthcare
Risk of having a child with disability
 Risk
for first cousins is still low (i.e. 4%
instead of 2%, 96% have healthy children) but
this is doubled, not a 2% increase
 Risk for the community is an extra 2%
incidence (i.e. with 2,000 consanguineous
births each year, an extra 40 children with
autosomal recessive conditions)
Every Baby Matters Initiative in
Bradford
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Bradford district Infant Mortality report: Review of data on births and
deaths between 1995-03 and found that babies in Bradford: 1.7 times more likely to die in their first year than babies born in
England and Wales as a whole. ( 2001-3 figures)
 more likely to die from congenital anomalies, infections and other
specific conditions
 born to Pakistani-origin mothers were twice as likely to die in
their first year of life compared to caucasian mothers as a whole
– this increased burden of infant mortality is seen across
England and Wales as well as in Bradford.
 64 infant deaths across the District a year between 1996 and
2003
 When compared with England as a whole, predicted total
number of deaths 41
 Approximate excess of 23 deaths a year in Bradford.
Aim of Every Baby Matters Initiative
in Bradford
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10 Recommendations (Genetics no. 7)
58 % of Bradford’s births (approximately 5,000 a
year) are from the two most deprived quintiles
and our challenge is to decrease the numbers of
babies that die within these births by 10%.
‘To make sure that all parents with one child with
an inherited disorder will understand the risk of a
future baby carrying a similar disorder, and be in
a position to make an informed choice about
having another baby.’
Info in Leaflet : Be genetics aware!
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Families from all communities can be affected by genetic disorders
We know more about genes today than we used to, so it's right that we have access
to information and services so we can make informed choices
There are many health problems associated with genes but, in infant health, there is
a particular concern with problems caused by recessive genes
Common examples of these types of conditions include cystic fibrosis, sickle cell
disease, thalassaemia and some neurological and metabolic diseases
For conditions caused by recessive genes, the risk is higher in families with a
marriage to a close relative, e.g. a cousin, as it is more likely they both carry the
same gene
It's important to note that most children born to cousins are healthy and unaffected,
but babies born to parents who have the same recessive gene are at a higher risk of
being born with an inherited health problem and some rare recessive conditions can
prove fatal
Talk to your GP if you think that a child in your own or your wider family may have
been affected by an inherited disorder.
Your GP can help you to assess the risks and if necessary book you an appointment
with a genetic counsellor
A genetic counsellor will be able to give a more rounded picture about your risk of
genetic problems and what your choices are around this
Counselling in primary care
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Explore what they know and want to know
‘Screen’ family history
•
Any history of known recessive disorder?
Remember to ask about family history of:
1.
2.
3.
4.
5.
Miscarriages and still births
Birth defects (such as cleft lip, heart defects, spina
bifida, limb abnormalities)
Blindness/vision loss/deafness/hearing loss at a
young age
Developmental delay/ learning disorders
Regular attendance at CDC / OPD or visits from
outreach team e.g. Metablic
Counselling in Primary Care
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If no significant family history:
 Can
counsel re general risk
 Offer screening according to ethnicity
 No other specific testing possible
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If possible / significant family history:
 Are
they pregnant? If pregnant and would
affect decisions then refer urgently i.e. phone
 What do they want to know?
 Can offer routine referral otherwise.
Resources for patients
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www.cafamily.org.uk
 Support
for families in which there is a rare
genetic disorder
 SWANUK
 [email protected]