Presentation regarding the counseling of genetic disorders and the steps involved along with the process of Genetic counseling guidance,way to disclose the results,steps to be taken for the care of mentally ill persons.

1. 1
GENETIC COUNSELING
SEMINAR
ON
PRSENTED BY
ANUPAM DUTTA(18MSG0007)
PRASHANTH S. JAVALI(18MSG0043)
GENETIC BASIS OF
PSYCHIATRIC
DISRODERS AND
THE RELEVANCE OF
CLINICAL PRACTICE

2. GENETICS OF
PSYCHIATRIC
DISORDERS
Psychiatric genetics is a subfield
of behavioral
neurogenetics and behavioral
genetics which studies the role of
genetics in the development
of mental disorders
Many psychiatric conditions strike
early, often emerging in the teens
and the lifetime impact on
individuals and society is high, both
in terms of years lost to
disability and financial cost
In recent years, genes have been be identified for disorders
such as schizophrenia (e.g., DISC1, TCF4, ZNF804A), bipolar affective disorder
(CACNA1C, ODZ4), autism (neuroligins,
neurexins), attention deficit disorder (DAT, DRD4), and alcohol dependence
(GABRA2, ADH4).
One of the most promising clues we
have to the biology of psychiatric
disorders is inheritance.
Schizophrenia, bipolar disorder, and
other devastating mental illnesses are
highly heritable
Major approaches in psychiatric
genetics include assessment of:
structural variation through
karyotyping, array-based methods,
high-throughput sequencing to
The genes do not encode mental
illnesses. Mental illnesses are defined as
mixtures of symptoms packaged into
syndromes. Genes encode proteins, and
that in mental illnesses, individual genes
code for a subtle molecular abnormality
caused by a genetically altered protein.
This could include proteins that regulate
neurodevelopment, such as neuronal
selection, migration, differentiation, or
synaptogenesis.
2

3. STEP 4
WHICH GENES
ARE INVOLVED?
STEP 5
HOW DO THE GENES
PRODUCE THE DISEASE?
STEP 3
HOW MUCH DO
GENES AND THE
ENVIRONMENT
CONTRIBUTE?
STEP 1
DOES THE
DISORDER RUN
IN FAMILIES?
CLASSICAL
PSYCHIATRIC
GENETICS
The polygenic architecture of
psychiatric traits is
determined by various
combinations of interacting
factors such as single
nucleotide polymorphisms
(SNPs), copy number
variations (CNVs) etc.
Genome-Wide Association
Study (GWAS) data has
demonstrated that a
considerable proportion of the
heritability of mental illnesses.
3
STEP 2
IS FAMILIALITY DUE
TO GENES OR THE
ENVIRONMENT?

4. Clinical Epidemiology:
Twin, Family and Adoption
Studies
Segregation Analysis
Linkage Analysis
Association Studies
Genome-Wide Association
Studies (GWAS)
Sequencing Studies
Copy Number Variation
(CNV)
High Risk Studies
METHODS IN CLASSICAL PSYCHIATRIC
GENETICS
1
2
3
4
8
7
6
5
4

5. 1.CLINICAL EPIDEMIOLOGY: TWIN, FAMILY AND ADOPTION STUDIES
1. Family studies establish that a given disorder runs in families.
2. They do not directly show whether this is due to Genes or environmental factors.
3. In family studies, probands are selected, and their families are examined for a given disorder.
4. Their rates of the disorder are then compared with either a control group or the population.
5. Family studies cannot directly give estimates of genetic contributions.
2.SEGREGATION ANALYSIS
1. Segregation analysis is used to determine whether the pattern of illness in families is consistent with a
specific mode of transmission.
2. This is most useful for a condition in which a single gene accounts for a substantial portion of the variance.
Some of the complexities of major psychiatric disorders include:
• Variable penetrance (some individuals with the genetic predisposition will not manifest the disease)
• Phenocopies (individuals without a genetic predisposition who manifest the symptoms of the disease)
• Genetic heterogeneity (more than one type of genetic cause can produce the same syndrome)
3.ASSOCIATION STUDIES
1. In this method, the frequency of markers is compared in affected and unaffected subjects.
2. A chi-square test is used to compare frequencies of the marker in both groups, and the relative risk can be calculated.
3. In such studies, populations must ideally be as genetically homogeneous as possible
5

6. 4.LINKAGE ANALYSIS
1. This study exploits the phenomenon of linkage
2. There are two type of linkage study as follows-
A. Parametric linkage studies-
• In this study the frequency of illness, and particular markers are measured in families
• A predetermined measure of inheritance is chosen
B. Nonparametric linkage studies-
• Also known as the affected sibling pair (asp) Method
• In this disorder, the frequency with which the given genetic marker is inherited from a parent is measured.
5.GENOME-WIDE ASSOCIATION STUDIES (GWAS)
1. A genome-wide association study is defined as any study of genetic variation across the entire human
genome that is designed to identify genetic associations with observable traits or the presence or absence
of a disease (such as cancer) or condition.
2. This methodology enables examination of virtually every gene in the genome with multiple SNPs.
3. Even detection of variation some distance from the actual SNP tested.
6.SEQUENCING STUDIES
1. Sequencing Studies have been initiated in a number of major psychiatric disorders including bipolar disorder.
2. The two strategies generally employed are Whole Genome Sequencing and Exome sequencing, the former involving
determination of every base pair in a subject’s genome and the latter involving just the ~2% of the genome that is directly
transcribed or in known regulatory regions.
6

7. DIAGNOSTIC GENETIC TESTS
IN PSYCHIATRY—MODERN
APPROACH
Currently, the only true opportunity for
psychiatric diagnostic tests is the use to
complement the diagnostic process in a few
clinical situations:
1. Predicting the response or adverse effects of
a drug.
2. Excluding disorders mimicking psychiatric
conditions or causing symptoms specific to
mental
3. Confirming a diagnosis or supporting the
selection of therapy
4. Detecting variants associated with a higher
risk for major psychiatric disorders
01
02
03
04
05
WHOLE-EXOME SEQUENCING (WES)
WHOLE-GENOME SEQUENCING (WGS)
RNA SEQUENCING (RNA-SEQ)
MICROARRAYS TESTING
REVERSE PHENOTYPING
7

8. TESTS CHARACTERISTICS
WHOLE-EXOME SEQUENCING
(WES)
WES can be used to detect a wide range of genetic variants through sequencing of all coding
genes with flanking regions. The advantages of such a targeted approach, as compared to WGS,
include: lower cost, easier interpretation of the obtained data
WHOLE-GENOME SEQUENCING
(WGS)
WGS covers up to 95 % of the human genome including both coding and non-coding regions. WGS
allows for more homogeneous read coverage and better-balanced allele ratio calls as compared to
WES.WGS remains more expensive than WES and requires sophisticated computational methods
to process large-scale genomic data.
RNA SEQUENCING (RNA-SEQ) RNA-seq can accurately identify disease-associated transcript variants that alter gene expression.
RNA-seq improves discovery of novel transcripts, splicing variants and so on. RNA/cDNA
sequencing can be applied as an alternative for RNA expression microarrays.
MICROARRAYS TESTING Microarray-based comparative genomic hybridization techniques along with cytogenetic
techniques remain the most important tool for the analysis aimed at the detection of structural
variants
REVERSE PHENOTYPING This approach enables stratification of patients according to genetic markers but not according to
phenotypes. Reverse phenotyping, together with careful protein structural analysis and functional
tests, had a crucial role in achieving the correct diagnosis.
DIAGNOSTIC APPROACHES PSYCHIATRIC GENETICS
8

9. Over 300 psychiatric disorders have
been described, and four are covered
in this review. The conditions selected
are all psychiatric disorders that have
been subjected to intensive genetic
study and for which genome-wide
results (usually GWASs and structural
variation but also genome-wide linkage
and resequencing) have been
obtained.
Autism spectrum disorder (ASD)
Bipolar disorder (BIP)
2
3
4
9
FEW PSYCHIATRIC
DISRODERS 1 Alzheimer’s disease
Schizophrenia (SCZ)
9

10. STAGE 1
MILD
1. Memory loss
2. Language
problems
3. Mood swings
4. Personality
changes
STAGE 2
MODERATE
1. Unable to learn, recall
information
2. Long-term memory affected
3. Wandering, agitation,
confusion
STAGE 3
SEVERE
1. Gait, incontinence
2. Motor disturbances
3. Bedridden
4. Placement in long-
term care needed
• Alzheimer’s disease is a neurological brain
disorder
• Alzheimer’s is progressive and irreversible
• Memory loss is one of the earliest symptoms,
along with a gradual decline of other
intellectual and thinking abilities, called
cognitive functions, and changes in personality
or behavior
• The main pathological hallmarks of Alzheimer’s
disease includes:
1.Extracellular deposition of ß-
amyloid (Aβ) plaques
2.Intraneuronal neurofibrillary
tangles.
1.ALZHEIMER’S
DISEASE
10

11. MUTATIONS IN APP,PSEN1 AND PSEN2 GENE
• Caused by mutation into 3 genes-APP,PSEN1 and PSEN 2
• Genes encode protein involved in Amyloid Precursor Protein [APP] and
Aβ generation
• A𝛽 is generated from APP by two endoproteolytic cleavage events
catalyzed by 𝛽-secretase and γ-secretase
• APP gene mutations are found in EOAD families
• 33 different APP mutations have been identified in AD patients to
date, including 23 missense mutations, nine duplications, and one
deletion
• Dysfunctional activity of these proteases, results in Aβ accumulation,
which stimulates diverse cell signaling pathways, and lastly resulting in
synaptic degeneration, neuronal loss, and cognitive decline
• Mutations in the PSEN1 and PSEN2 genes have been identified in
EOAD families.
• These genes encode for presenilin 1 and presenilin 2 proteins
respectively, required for 𝛽-secretase to produce A𝛽 from APP
• To date, approximately 200 different AD-related PSEN1 mutations and
22 AD-related PSEN2 mutations have been detected
EARLY ONSET ALZHEIMER’S DISEASE (EOAD)
11
OCCURANCE OF EOAD
SPORADIC FAD AUTOSOMAL DOMINANT
54%60%
4%
Source-Total Health Guide

12. MUTATIONS IN APOE GENE
• For most cases of LOAD, the risk of developing AD is assumed to be
determined by genetic variants combined with lifestyle and
environmental exposure factors
• The 𝜀4-allele of the apolipoprotein E gene (APOE) on chromosome
19q13.2 is the only well-established genetic risk factor for LOAD
• Apolipoprotein E (Apo E) gene is polymorphic and it has three
isoforms: Apo ɛ2, Apo ɛ3 and Apo ɛ4. The ɛ4 allele has been linked to
both late onset family forms and sporadic forms of AD, whereas ɛ2
allele was found to offer protection
LATE ONSET ALZHEIMER’S DISEASE (LOAD)
GENOT
YPE
E2/e2 E2/E3 E4/E4 E3/E3 E3/E4 E4/E4
Disease
risk
40%
less
likely
40%
less
likely
2.6
times
more
likely
Averag
e risk
3.2
times
more
likely
14.9
times
more
likely
12
OCCURANCE OF EOAD
SPORADIC FAD AUTOSOMAL DOMINANT
70%
27%
3%
Source-Total Health Guide

13. COMMON SYMPTOMS AND DIAGNOSIS OF ALZHEIMER’S DISEASE
13
DIAGNOSTIC TESTS
1.Psychiatric
assessment
2.Mental status
examination
3.Neuro
psychological
assessment
4.Brain imaging
A.CT scan B.MRI C.PET D.SPECT
5.CSF
Examination
6.Electro-
encephalogram
(EEG)
7.Electromyogr
am
8.Laboratory
tests

14. CURRENTLY THERE IS NO CURE FOR ALZHEIMER’S DISEASE
Acetylcholinesterase inhibitors
(AChEIs)
Tacrine, Donepezil, Galantamine,
Rivastigmine & Huperzine A
1. The AChEIs act by preventing the
enzymatic degradation of the
neurotransmitter acetylcholine (ACh)
resulting in increased ACh concentrations
in the synaptic cleft & enhanced
cholinergic transmission
2. Major side effects: GI symptoms
(Nausea, Diarrhea, Cramps), altered
sleep, bradycardia & muscle cramps
Non-competitive N-methyl-D-
aspartate (NMDA) receptor
antagonist
Memantine, Dimebolin
1. Acts by blocking overexcited NMDA
receptors which blocks entry of Ca++
thereby decreasing glutamate release &
inhibiting processes which led to
neurotoxicity
2. Adverse effects are mild & reversible and
may include headache or dizziness
CURRENT TREATMENT FOR ALZHEIMER’S DISEASE
14

15. 2.SCHIZOPHRENIA (SCZ)
• A group of common major psychoses with a
complex syndromal presentation, affecting young
adults, showing chronic changes in behavior,
perception, thoughts and emotions, causing a
fundamental disorganization in personality and
deterioration from previous levels of functioning
• No one knows the exact causes of Schizophrenia,
but multiple possible factors have been
discovered. These factors include:
1. Genetics
2. Brain chemical imbalance
3. Environmental factors
4. Family history
• Association studies suggest that alleles of at least
two genes, NOTCH4 gene and COMT, confer a rise
in susceptibility to schizophrenia
15

16. • NOTCH 4 gene is located in the region 6p21.3
• NOTCH signaling has a significant role in the development of CNS and regulates
the generation of neurons and glial from neural stem cells
• In addition NOTCH regulates the differentiation of GABAergic neurons and has a
role in maintenance of synapses and the neuroglial cells lineages in hippocampus
• COMT is located in 22q11,a susceptibility locus for schizophrenia
• COMT has a functional polymorphism,VAL108/158 MET
• MET/MET genotype is associated with 3-4 fold lower enzyme activity than
VAL/VAL genotype. Thus lower activity COMT of MET allele carrying subjects may
lead to higher dopamine level in CNS
• APOE gene is located in 19q13.2 and has many polymorphism in both exons and
introns
• APOE is expressed in humans in three isomers coded by three different alleles:
Apo ɛ2, Apo ɛ3 and Apo ɛ4.
• The ɛ4 allele has been associated with the risk of schizophrenia
MUTATIONS IN
COMT(CATECHOL-O-
METHYLTRANSFERASE
GENE)
MUTATIONS IN NEUROGENIC
LOCUS NOTCH HOMOLOG
PROTEIN 4(NOTCH4) GENE
MUTATIONS IN
APOLIPOPROTEIN E(APOE)
GENE
16

17. THE SYMPTOMS OF SCHIZOPHRENIA CAN BE CATEGORIZED INTO THREE WIDE-RANGING GROUPS-
1. POSITIVE SYMPTOMS
2. NEGATIVE SYMPTOMS
3. COGNITIVE SYMPTOMS
SYMPTOMS REFLECTS AN
INCREASED IN THE PRESENCE OF
ABNORMAL BEHAVIOUR
1.HALLUCINATIONS
(VISUAL AND AUDITORY)
2.DELUSIONS
3.RACING THOUGHTS
SYMPTOMS REFERS TO AN
ABSENCE OF NORMAL
BEHAVIOURS FOUND IN HEALTHY
INDIVIDUALS
1.APATHY
2.LACK OF EMOTION
3.POOR SOCIAL
FUNCTIONING
COGNITIVE SYMPTOMS INVOLVE
PROBLEMS WITH THOUGHT
PROCESS
1.DISORGANIZED
THOUGHTS
2.DIFFICULTY
CONCENTRATING
3.MEMORY PROBLEMS
COMMON SYMPTOMS OF SCHIZOPHRENIA
POSITIVE SYMPTOMS NEGATIVE SYMPTOMS COGNITIVE SYMPTOMS
17

18. DIFFERENTIAL DIAGNOSIS
MEDICAL PSYCHIATRIC
18

19. 1. Typical antipsychotics
Chlorpromazine, Trifluoperazine,
Haloperidol
2. Atypical antipsychotics
Olanzapine, Risperidone, Quetieapine
1. Supportive psychotherapy
2. CBT for resistant hallucinations and
delusions
3. Cognitive remediation
4. Social skills training
1. Helps to reintegrate
2. Training in Self care, ADLs
3. Attending skills, Communication skills
4. Vocational training, working in a supportive
environment
03
01
1. Psycho education
2. Learning better coping strategies
3. Familiarizing with medications, symptoms
4. Dealing with expressed emotions (EE)
5. Supportive counselling to the family member
02
04
MANAGEMENT OF SCHIZOPHRENIA
PHARMACOLOGICAL MANAGEMENT REHABILITATION
PSYCHOSOCIAL MANAGEMENT FAMILY WORK
19

20. 3.AUTISM SPECTRUM
DISORDER (ASD)
Autism is a developmental disorder,
neurological in nature affecting the brain in
4 major areas – language/communication,
social skills, sensory, and behavior
It is estimated that 1 in every 100 people in the UK
have an Autism Spectrum Disorder (ASD)
ASD is a lifelong condition and affects people from all
backgrounds
ASD affects more males than females
Many people with an ASD have not been diagnosed,
and therefore may not realise they have the condition
ASD is diagnosed 4x more often in males than females
WHAT ARE THE CAUSES?
• Genetics- It can be acquired from their
parents or younger siblings. And it may
be an existing infrequent genetic
syndrome, including Fragile X
syndrome and Williams syndrome
• • Environmental factors- Viral infections,
medications or complications during
pregnancy, alcohol, or air pollutants
may play the role to developing ASD.
20

21. 2
3
4
5
1
The most parsimonious explanation for cases of autism where a single child is affected and there
is no family history or affected siblings is that a single spontaneous mutation that impacts one or
multiple genes is a significant contributing factor
Examples of autism that has arisen from a rare or de novo mutation in a single-gene
or locus include the neurodevelopmental disorders fragile X syndrome, 22q13 deletion
syndrome, and 16p11.2 deletion syndrome
These mutations themselves are characterized by considerable variability in clinical
outcome and typically only a subset of mutation carriers meet criteria for autism
Around 85% have a neurobehavioral diagnosis, including autism, ADHD, anxiety disorders,
mood disorders, gross motor delay, and epilepsy, while 15% have no diagnosis
Alongside these neurobehavioral phenotypes, the 16p11.2 deletions / duplications have been
associated with macrocephaly / microcephaly, body weight regulation Therefore, a single mutation
can have multiple different effects depending on other genetic and environmental factors
GENETIC
BASIS OF
ASD
21

22. Individuals with an ASD have impairments in the following areas:
Social Communication Social Interaction
Social Imagination and
Flexibility of Thought
Restricted or repetitive
patterns of behaviour
Restricted, repetitive
interests or activities
Unusual sensory
responses
SYMPTOMS OF AUTISM SPECTRUM DISORDER
22

23. HOW YOU CAN HELP?
Adapt your communication style
Being aware of Autism Spectrum Disorders and the
difficulties experienced by individuals with ASD is key
If struggling ask- ask the individual, carers or seek advice
from others
Be understanding, people with ASD have a lot to offer
society but may need support
Consider how you can adapt the environment to
decrease sensory issues (decrease noise, dim lighting,
find a quiet space etc.)
ADAPTING YOUR COMMUNICATION CAN
HELP AN INDIVIDUAL WITH ASD
Speak
slowly and
clearly
Don’t use
idioms or
metaphors
Allow time
for the
individual to
process
information
Keep
instructions
short
Avoid
relying on
gesture,
facial
expression
or tone of
voice
23

24. 4.BIPOLAR DISORDER (BIP)
• Bipolar disorder is an episodic, potentially
life-long, disabling disorder that can be
difficult to diagnose
• Known as Manic Depression, Results in
pathological mood swings from mania to
depression, These mood swings occur
spontaneously
• The elevated mood is significant and is
known as mania or hypomania depending
on the severity or whether there is
psychosis. During mania an individual feels
or acts abnormally happy, energetic, or
irritable
• Symptoms of bipolar disorder are extremely
hard to distinguish in children and easier to
see in adults. This is due to the child’s
developmental stages and how growth
affects mood
BIPOLAR DISORDER NOS-
This is a catchall category,
diagnosed when the disorder
does not fall within a specific
subtype
BIPOLAR I DISORDER-
Individuals have had at least
one full manic or mixed mood
episode, and may suffer from
episodes or depression
BIPOLAR II DISORDER-
When the individual has at
least one depressive episode
and at least one hypo manic
episode, but never experience
a full manic or mixed mood
episode
CYCLOTHYMIA-
A history of hypomanic
episodes with periods of
depression that do not meet
criteria for major depressive
episodes
TYPES OF BIPOLAR DISORDER
24

25. • Mood: loss of interest, apprehension, general
discontent, hopelessness, anger, elevated
mood, guilt, mood swings, apathy, inability to
feel pleasure, euphoria, or sadness
• Behavioral: hyperactivity, self-harm, risky
behavior, irritability, aggression, agitation, crying,
impulsivity, or excess desire for sex
• Cognitive: lack of concentration, unwanted
thoughts, false belief of superiority, delusion,
racing thoughts, or slowness in activity and
thought
• Psychological: agitated depression, paranoia,
anxiety, manic episode, or depression
• Sleep: difficulty falling asleep or excess
sleepiness
• Weight: weight loss or weight gain
• Also common: rapid and frenzied speaking,
restlessness, or fatigue
Bipolar disorder often goes unrecognized and
is commonly diagnosed during adolescence or
early adulthood. The disorder can be difficult
to distinguish from unipolar depression and
the mean delay in diagnosis is 5–10 years
after symptoms begin. Diagnosis of bipolar
disorder takes several factors into account
and considers the self-reported experiences of
the symptomatic individual, behavior
abnormalities reported by family members,
friends or co-workers, and observable signs of
illness as assessed by a psychiatrist, nurse,
social worker, clinical psychologist or other
health professional. Assessment is usually
done on an outpatient basis; admission to an
inpatient facility is considered if there is a risk
to oneself or others.
COMMON SYMPTOMS DIAGNOSIS
25

26. TREATMENTS AND MEDICATIONS
• Therapies: Psychotherapy, Support
group, Family therapy
• Hospitalization
• Specialists
• Psychiatrist: Treats mental disorders
• Primary care provider
• Clinical Psychologist
TREATMENTS
• Prozac
• Topamax
• Latuda
• Mood Stabilizer-Some authorities
suggest 2 out of 3 of the following
properties-Antimanic,antidepressive,
prophylactic
MEDICATIONS
26
0
0.5
1
1.5
2
2.5
3
3.5
4
16-24 25-34 35-44 45-54 55-64 65-74
POSITIVE BIPOLAR DISORDER
SCREEN,BY AGE AND SEX
MEN WOMEN
NHS Digital and National Statistics

27. GENETIC COUNSELLING AIMS TO ADDRESS THE INDIVIDUAL NEEDS, QUESTIONS
AND CONCERNS OF THE PATIENT IN THE PARTICULAR CONTEXT OF HIS OR HER
FAMILY AND SOCIETY. GENETIC COUNSELLING FOR PSYCHIATRIC DISORDERS HAS
ADVANCED ALONGSIDE THE GROWING FIELD OF PSYCHIATRIC GENETICS
IT IS ANTICIPATED THAT GENETIC COUNSELLING FOR PSYCHIATRIC DISORDERS
WILL EXTEND AND ENHANCE PATIENT CARE BY INFORMING PATIENTS ABOUT THE
DISORDER, THE ROLE OF GENETICS AND THE IMPACT OF ENVIRONMENTAL
FACTORS
THE GENETIC COUNSELLING PROCESS CAN EXAMINE RISKS OF RECURRENCE IN A
BALANCED MANNER, CLARIFY MISUNDERSTANDINGS, FACILITATE INFORMED
DECISION MAKING AND OFFER SUPPORT TO PATIENTS AND THEIR FAMILIES5
THE GENETIC COUNSELLOR IS AWARE OF THE MOST APPROPRIATE AND
RELEVANT RESOURCES AND CAN FACILITATE REFERRAL TO OTHER HEALTH
PROFESSIONALS OR COMMUNITY-BASED SUPPORT GROUPS
COUNSELING OF PSYCHIATRIC DISORDERS
27

28. PROCESS OF GENETIC COUNSELLING
1. Basic education by mental health or primary care
clinician
2. Coordinate tests and counseling with primary
care clinician
3. Begin with accurate diagnosis
4. Obtain family history
5. Evaluate emotional and intellectual capacity of
family members
6. Evaluate burdens and benefits of testing
7. Discuss recurrence risks
8. Facilitate non-directive decision-making
28

29. The genetic counsellor collects detailed
information about family history and constructs a
family tree (pedigree), which may be useful in
determining an individual risk estimate. The
pedigree may in fact reveal a clear pattern of
inheritance. Although rare, some families do
exhibit Mendelian-like inheritance patterns
The estimation and discussion of risk is a critical
component of the genetic counselling process.
An increased risk of psychiatric disorders can be
identified through family history information. The
empirical risk of developing a disorder has been
determined for many psychiatric disorders and
can be used as a general guide
Finally, the presence of related psychiatric
disorders within a given family may be evidence
that the risks to an individual are altered.
However, at this stage the specific research data
required to calculate an accurate risk are not
available.
Age of onset also needs to be taken into account
when looking at risk. In many adult psychiatric
disorders, early onset of symptoms is thought to
be indicative of a more heritable form of the
disorder. There is also evidence to suggest that
in schizophrenia, a more severe illness could
mean relatives are at greater risk of also having
the condition
29
RISKS OF RECURRENCE

30. Families with a history of mental health problems may already be confronted with guilt, shame and
stigma. An improved understanding of the genetic cause of these disorders may help to decrease these
experiences, if the information is presented in a balanced manner
It seems likely that gaining an understanding of the genetic basis of these disorders through genetic
counselling may help many patients and their families cope with the associated stigma
The opportunities for family members to discuss their experiences and concerns surrounding mental
illness are at best infrequent, and genetic counselling may provide a welcome forum. Similarly, support
for caregivers can be addressed, and the session may also provide an opening to talk about the
importance of family support to the patient, and the strain this can put on family members
If a patient or family member is at increased risk of a particular disorder, it may be helpful to discuss early
signs and symptoms and encourage an early psychiatric assessment. Stress plays a pivotal role in the
triggering of psychiatric disorders, and the session could examine the individual’s approach to avoiding
high stress levels
EMOTIONAL RESPONSES AND IMPLICATIONS FOR THE
INDIVIDUAL AND THEIR FAMILY
30

31. THANK YOU
31