Primary Care Physicians Role

in Screening Genetic Diseases

Tiar M. Pratamawati,dr. MM.,M.Biomed
Department of Genetics
Faculty of Medicine
Universitas Swadaya Gunung Jati
Objectives for today’s session
• To outline the scope of genetics in primary care
• To identify some useful guidelines and resources for clinicians
• To identify useful resources for patients
• To outline the structure of services providing care to patients with genetic issues
• To touch on common forms of inheritance
• To discuss some common presentations of patients with genetic issues
• To encourage ‘thinking Genetics’ where you might not have done before!
 1900 Mendel’s Laws rediscovered
A Conceptual 1901 Dominant inheritance of brachydactyly

History of 1902 Inborn errors of metabolism

1918 Anticipation described

Medical Genetics 1931 Cytoplasmic inheritance of mitochondrial DNA
1937 Linkage of color blindness and hemophilia
1955 Human diploid chromosome number is 46

1970 Amniocentesis for chromosomal disorders

1970 Tay-Sachs screening

1976 Human globin genes cloned

1987 Predictive genetic testing for Huntington disease

1991 Medical genetics became an ABMS specialty

2001 Draft sequence for the human genome

What does Genetics mean to you?

• Tricky
• Dry
• Highly Specialised – sometimes the patients know
more than you do
• Interesting challenge
• Hard to explain to patients
What is DNA? Gene? Kromosom?
Cell
• The basic unit of any
living organism.

• It is a small, watery,
compartment filled
with chemicals and a
complete copy of the
organism's genome.
What does Genetics mean to you?

Craniofaciocutaneous Syndrome

Mental retardation
ASD / HOCM
Icthyosis
Sparse Hair
High Forehead
Prominent ears
Depressed nasal bridge
What would you
like to know?
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?
• Creating A Pedigree
Family History – why do we do it?

Supporting Genetics Education for Health

www.geneticseducation.nhs.uk
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
Scope of Genetics in Primary Care
• 10% of consultations have genetic aspect
• Mostly multifactorial disease with genetic component e.g. Congenital
Heart Disease (CHD), Asthma, Alzheimers, Diabetes
• Single gene disorders e.g. CF, Huntington’s,
• (Pharmacogenetics)
• Reproductive issues e.g. Repeated Pregnancy Loss, Amenorrhea
Primer
The Patterns of Genetic Inheritance

Mendelian Non-Mendelian
• Autosomal Dominant • Imprinting
• Autosomal Recessive • Mitochondrial
• X-linked Recessive • Multifactorial
• X-linked Dominant • Sporadic
• Y-linked • Contiguous gene syndromes
Autosomal Dominant

• Vertical pattern: multiple generations affected

• Males and females equally likely to be affected
• See male to male transmission
• Each child of an affected individual has a 50% chance to be affected
• Unaffected individuals do pass on the gene
• Every affected child has an affected parent

(Adapted from The Pedigree: A Basic Guide, by Jorgenson, Yoder & Shapiro)
Autosomal Recessive

• Horizontal pattern: single generation affected.

• Males and females equally likely to be affected
• Parents of affected child are unaffected gene carriers and have
a 1 in 4 or 25% recurrence risk
• Unaffected siblings have a 2/3 or 67% chance to be carriers.
• Children of affected individuals are obligate carriers.

Adapted from The Pedigree: A Basic Guide, by Jorgenson, Yoder & Shapiro
Multifactorial Inheritance

Increased risk due Genetic

to family history (Risk Factors) Condition

Environmental factors Genetic Factors

‘Nurture’ ‘Nature’
Primary Care Physicians Role in Genetic
Diseases
• “Incorporating genetics into primary care involves a shift of paradigm
in medical thinking… It involves thinking about the genetic makeup
of each individual in every encounter to develop differential
diagnoses for disease or for preventive counselling.
• In this scenario, child health providers will need to incorporate a new
approach to primary care, with emphasis on certain skills, and also
will need to be re-educated and updated on new knowledge in
genetics.”
“Primary Care Pediatrics: 2004 and Beyond”; Pediatrics, Vol. 113 No. 6 June 2004, pp. 1802-1809
Primary Care Physicians Role in Genetic
Diseases
• Primary care physicians are in an ideal position to evaluate and treat
patients with genetic diseases.
• The potential roles of primary care providers in genetic medicine can
include:
• Identifying individuals who may benefit from genetic services
These individuals include those with a genetic disorder, as well as those at increased
risk for having or transmitting a genetic disorder.
• Recognizing historical and physical features of common genetic conditions
• Monitoring the health of individuals with a genetic disorder
Primary care providers in collaboration with appropriate subspecialists work to
monitor the health of patients with a genetic disorder or those with an increased risk
for having a genetic disorder.
• Providing basic genetics information to patients and families
By providing information regarding genetics to patients and families, primary care
providers are able to help their understanding and informed decision making.
Primary Care Physicians Role in Genetic
Diseases (Continued..)
• Providing a medical home
Individuals with complex genetic service needs can have a large care team that
works together to meet the patient's needs.
• Recognizing the special psychosocial issues
For a family in which one or more members are affected with a genetic disorder
or susceptibility primary care providers need to recognize and address relevant
psychosocial issues.
• Possessing knowledge of how to access the full range of genetics services from
which patients might benefit
• Appropriately referring patients
Primary care providers are in the position to know which patients with additional
genetics services needs require referral and are able to refer appropriately.
• Facilitating the use of genetics services.
Role of Primary Health Care Team
• 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 multi-factorial disease e.g. cancer, DM, CHD
Establishing the Diagnosis
• most crucial step
• If incorrect - totally misleading information could be given with tragic
consequences
• Reaching diagnosis involves three fundamental steps
• taking a history
• examination
• undertaking appropriate investigations
Examination
• Malformation
intrinsically abnormal developmental
process, occurring early in pregnancy
• examples
polydactyly, cleft lip, heart defects, anal
atresia, spina bifida
Malformation
16
Clinical characteristic

Sultana MH Faradz, UNDIP 33

Boy or Girl?

Quigley dan Prader stage

Ambiguous genitalia
Establishing the Diagnosis
• Information about patient's family is obtained by skilled genetics
nurse or counselor
• Pre-clinic telephone or home visit is helpful
• Clinic visit - full examination
• Appropriate tests - chromosomes, molecular studies, referral to
specialists (neurology, ophthalmology)
• PROBLEM - Genetic Heterogeneity, and etiologic heterogeneity
After Diagnosis - What Information should be
provided?
• Medical diagnosis and its
implications in terms of prognosis
and possible treatment

• Mode of inheritance of disorder Genetic

and the risk of developing and/or Counselling
transmitting it

• Choices or options available for

dealing with the risks
Genetic Counselling

• IS NON-DIRECTIVE
• 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’
Steps in Genetic Counseling
• Diagnosis - based on history, examination and
investigations
• Risk assessment
• Communication
• Discussion of Options
• Long-term contact and support
Conclusion
• Our role is to 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

THANK YOU