Genetic counseling

1. Genetic Counseling
Dr. Aminu Bello
Department of Chemical Pathology and Immunology
FBCS/CHS/UDUS

2. Introduction
• Genetic counseling is the process of investigating individuals and
families affected by or at risk of genetic disorders to help them
understand and adapt to the medical, psychological and familial
implications of genetic contributions to disease.
• This field is considered necessary for the implementation of genomic
medicine.
• Interpretation of family and medical histories to assess the chance of
disease occurrence or recurrence.
• Education about inheritance, testing, management, prevention,
resources
• Counseling to promote informed choices, adaptation to the risk or
condition and support in reaching out to relatives that are also at risk.

3. History
• The practice of advising people about inherited traits began
around the turn of the 20th century, shortly after William
Bateson suggested that the new medical and biological study
of heredity be called "genetics".
• Heredity became intertwined with social reforms when the field
of modern eugenics took form. Although initially well-
intentioned, ultimately the movement had disastrous
consequences.
• Many states in the United States had laws mandating the
sterilization of certain individuals, others were not allowed to
immigrate and by the 1930s these ideas were accepted by many
other countries including in Germany where euthanasia for the
"genetically defective" was legalized in 1939.

4. History cont’d
• This part of the history of genetics is at the heart of the now "non
directive" approach to genetic counseling.
• Sheldon Clark Reed coined the term genetic counseling in 1947 and
published the book Counseling in Medical Genetics in 1955.
• With the growth in knowledge of genetic disorders and the
appearance of medical genetics as a distinct specialty in the 1960s,
genetic counseling progressively became medicalized, representing
one of the key components of clinical genetics.

5. History cont’d
• It was not, though, until later that the importance of a firm
psychological basis was recognized and became an essential
part of genetic counseling, the writings of Seymour Kessler
making a particular contribution to this.
• The first master's degree genetic counseling program in the
United States was founded in 1969 at Sarah Lawrence
College in Bronxville, New York.
• In 1979, the National Society of Genetic Counselors
(NSGC) was founded and led by the first president, Audrey
Heimler.

6. Detection and early processes
• Diagnostic testing occurs when an individual is showing signs
or symptoms associated with a specific condition.
• Genetic testing can be used to arrive at a definitive diagnosis in
order to provide better prognosis as well as medical
management and/or treatment options.
• Testing can reveal conditions can be mild or asymptomatic with
early treatment, as opposed to debilitating without treatment
(such as phenylketonuria).

7. Detection and early process
• Genetic tests are available for a number of genetic conditions,
including but not limited to:
• Down syndrome, sickle cell disease, Tay–Sachs
disease, muscular dystrophy.
• Establishing a genetic diagnosis can provide information to
other at-risk individuals in the family.
• Any reproductive risks (e.g. a chance to have a child with the
same diagnosis) can also be explored after a diagnosis.

8. Detection and early process
• Many disorders cannot occur unless both the mother and father pass
on their genes, such as cystic fibrosis; this is known as autosomal
recessive inheritance.
• Other autosomal dominant diseases can be inherited from one parent,
such as Huntington disease and DiGeorge syndrome.
• Yet other genetic disorders are caused by an error or mutation
occurring during the cell division process (e.g. aneuploidy) and are not
hereditary.

9. Screening test
• Screening tests are often used prior to diagnostic testing,
designed to separate people according to a fixed characteristic
or property, with the intention of detecting early evidence of
disease.
• For example, if a screening test during a pregnancy (such
as maternal blood screening or ultrasound) reveals a risk of a
health issue or genetic condition, patients are encouraged to
receive genetic counseling to learn additional information
regarding the suspected condition.

10. Screening
• A discussion of the management, therapy and treatments
available for the conditions may take place.
• The next step may differ depending on the severity of the
condition and range from during pregnancy to after delivery.
• Patients may decline additional screening and testing, elect to
proceed to diagnostic testing, or pursue further screening tests
to refine the risk during the pregnancy.

11. Pre symptomatic or predictive testing
• Pre symptomatic or predictive testing occurs when an individual
knows of a specific diagnosis (typically adult onset) in their family
• Likewise, has other affected relatives, but they themselves do not
manifest any clinical findings at the time when they seek testing.
• The decision about whether or not to proceed with pre
symptomatic testing should entail a thoughtful approach and
consideration of various medical, reproductive, social, insurance,
and financial factors.

12. Pre symptomatic
• Availability of treatment and medical management options
for each specific diagnosis, as well as the genetics and
inheritance pattern of the particular condition should be
reviewed as inherited conditions can have
reduced penetrance.
• Insurance and legal issues should also be discussed during
genetic counseling.
• There are laws in the United States such as GINA (Genetic
Information Non-discrimination Act) and ACA that provide
certain protections against discrimination for individuals with
genetic diagnoses.

13. Approach and session overview
Approach.
• There are different approaches to genetic counseling.
• The reciprocal-engagement model of genetic counseling practice
includes tenets, goals, strategies, and behaviors for addressing
patients' genetic concerns.
• Some counselors favor a psycho-educational approach while
others incorporate more psycho-therapeutic techniques.
• Genetic counseling is psycho-educational as patients "learn how
genetics contributes to their health risks and then process what
this means and how it feels."
• Whether the process of genetic counseling is a form
of psychotherapy is up for debate. The relationship between the
client and counselor is similar as are the goals of the sessions.

14. Approach
• As a psychotherapist aims to help his client improve his
wellbeing, a genetic counselor also helps his client to address a
"situational health threat that similarly threatens client
wellbeing".
• Due to the lack of studies which compare genetic counseling to
the practice of psychotherapy, it is hard to say with certainty
whether genetic counseling can be "conceptualized as a short-
term, applied, specific type of psychotherapy".

15. Approach
• However, there few existing studies suggest that genetic counseling falls
"significantly short of psychotherapeutic counseling"
• This is because genetic counseling sessions primarily consist of the
distribution of information without much emphasis placed on explaining
any long-term impacts to the client.

16. Structure
• The goals of genetic counseling are to increase understanding
of genetic diseases, discuss disease management options and
explain the risks and benefits of testing.
• Counseling sessions focus on giving vital, unbiased information
and non-directive assistance in the patient's decision-making
process.
• Seymour Kessler, in 1979, first categorized sessions in five
phases: an intake phase, an initial contact phase, the encounter
phase, the summary phase, and a follow-up phase.

17. Structure cont’d
• The intake and follow-up phases occur outside of the actual counseling
session. The initial contact phase is when the counselor and families meet
and build rapport.
• The encounter phase includes dialogue between the counselor and the
client about the nature of screening and diagnostic tests.
• The summary phase provides all the options and decisions available for
the next step.

18. structure
• If patients wish to go ahead with testing, an appointment is
organized and the genetic counselor acts as the person to
communicate the results.
• Result delivery can happen both in person or via phone
• Often counselors will call out results to avoid patients having to
come back in as results can take weeks to be processed.
• If further counseling is needed in a more personal setting, or it
is determined that additional family members should be tested, a
secondary appointment can be made.

19. Support
• Genetic counselors provide supportive counseling to families,
serve as patient advocates and refer individuals and families to
community or state support services.
• They serve as educators and resource people for other health
care professionals and for the general public.
• Many engage in research activities related to the field of
medical genetics and genetic counseling.

20. Support
• When communicating increased risk, counselors anticipate the likely
distress and prepare patients for the results.
• Counselors help clients cope with and adapt to the emotional,
psychological, medical, social, and economic consequences of the test
results.
• Each individual considers their family needs, social setting, cultural
background, and religious beliefs when interpreting their risk.
• Clients must evaluate their reasoning to continue with testing at all.
• Counselors are present to put all the possibilities in perspective and
encourage clients to take time to think about their decision.

21. support
• When a risk is found, counselors frequently reassure parents that they
were not responsible for the result.
• An informed choice without pressure or compulsion is made when all
relevant information has been given and understood.
• After counseling for other hereditary conditions, the patient may be
presented with the option of having genetic testing.
• In some circumstances no genetic testing is indicated, other times it may
be useful to begin the testing process with an affected family member.
• The genetic counselor also reviews the advantages and disadvantages of
genetic testing with the patient.

22. Outcomes
• The most commonly measured genetic counseling outcomes
included knowledge, anxiety or distress, satisfaction,
perceived risk, genetic testing (intentions or receipt), health
behaviors, and decisional conflict.
• Results suggest that genetic counseling can lead to increased
knowledge, perceived personal control, positive health
behaviors, and improved risk perception accuracy as well as
decreases in anxiety, cancer-related worry, and decisional
conflict.

23. Adult genetic
• Adult or general genetics clinics serve patients who are
diagnosed with genetic conditions that begin to show signs or
symptoms in adulthood.
• Many genetic conditions have varying ages of onset, ranging
from an infantile form to an adult form.
• Genetic counseling can facilitate the decision-making process
by providing the patient/family with education about the
genetic condition as well as the medical management options
available to individuals at risk of developing the condition.

24. Adults genetics
• Having the genetic information of other members of the
family opens the door to asking important questions about the
pattern of inheritance of specific disease‐causing mutations.
• Whilst there is a wealth of literature that describes how
families communicate information surrounding single genes,
there is very little which explores the experience of
communication about family genomes.
• Adult-onset disorders may overlap multiple specialties.

25. Neurogenetics
• Genetic counselors specializing in neurogenetics are involved in the care of
individuals who have or are at risk to develop conditions affecting the central
nervous system (brain and spinal cord)
• Condition affecting peripheral nervous system (the nerves that leave the spinal
cord and go to other places in the body, such as the feet and hands, skeletal
muscles, and internal organs).
• Effects of these conditions can lead to various impairments some examples of
which include cognitive decline, intellectual disability, seizures, uncontrolled
movements (e.g. ataxia, chorea), muscle weakness, paralysis, or atrophy.

26. Neurogenetics
• Examples of neurogenetic disorders include:
• Brain malformation syndromes, including lissencephaly and polymicrogyria
• Brain tumor predisposition syndromes, including Neurofibromatosis 1 and 2
• Epilepsy (seizures).
• Hereditary motor neuron diseases, including amyotrophic lateral sclerosis (ALS/Lou
Gehrig's disease) and spinal muscular atrophy
• Hereditary neuropathies, including Charcot-Marie-Tooth disease
• Intellectual disabilities, developmental delays, and autism spectrum disorder
• Leukodystrophy (hereditary white matter diseases)
• Memory and other cognitive disorders, including Alzheimer disease and frontotemporal
dementia
• Movement disorders, including hereditary ataxia, spastic paraplegia, Huntington disease,
and Parkinson disease
• Neuromuscular disorders, including muscular dystrophies, congenital myopathies, and
congenital myasthenic syndromes

27. Pediatric genetics
• Pediatric genetic counseling can be indicated for newborns, infants,
children and their families. General referral indications can include:
• Birth defect(s) or multiple congenital anomalies (cleft lip/palate, heart
defects, spina bifida)
• Intellectual disability of unknown cause, learning disabilities, or
autism
• Sensory impairments (vision, hearing)
• Metabolic disorders (PKU, galactosemia, inborn errors of metabolism)
• Known/Suspected genetic disorders (e.g., Down syndrome, Cystic
Fibrosis, Muscular Dystrophy)
• Primary immunodeficiency

28. Prenatal genetics
• Prenatal genetics involves services for women either during or prior to a
pregnancy.
• General indications for referral to genetic counseling in the preconception
or prenatal setting may include, but are not limited to:
• Advanced maternal age (35 years old or older at time of delivery)
• Advanced paternal age
• Current pregnancy with anomalies identified by ultrasound (e.g.
increased nuchal translucency measurements)
• Current pregnancy with an abnormal genetic screening test or test result
• Current pregnancy with risk of or concern for maternal exposures, such as
medications, radiation, drugs/alcohol, or infections

29. Prenatal
• Consanguineous union (cousins or otherwise blood related)
• Family history of an inherited genetic condition or
chromosome abnormality
• Genetic carrier screening for recessive and/or X-linked
diseases
• History of a previous child with a birth defect, developmental
delay, or other genetic condition
• History of infertility, multiple unexplained miscarriages or
cases of unexplained infant deaths
• Molecular test for single gene disorder
•

30. Prenatal genetic counseling
• Prenatal genetic counseling may help with the decision-making
process by walking patients through examples of what some people
might do in similar situations, and their rationale for choosing that
option.
• Decisions made by patients are affected by factors including timing,
accuracy of information provided by tests, and risk and benefits of the
tests.
• This discussion enables patients to place the information and
circumstances into the context of their own lives, and in the context
of their own values.

31. Prenatal genetic counseling
• They may choose to undergo noninvasive screening
(e.g. ultrasound, triple screen, cell-free fetal DNA screening) or
invasive diagnostic testing (amniocentesis or chorionic villus
sampling).
• Invasive diagnostic tests possess a small risk of miscarriage (1–2%)
but provide more definitive results.
• Testing is offered to provide a definitive answer regarding the
presence of a certain genetic condition or chromosomal abnormality.
• Prenatal genetic counseling also comes with ethical concerns both as
the parents and as the counselor.
• It is important to consider all factors that go into the counseling, race,
ethnic background, family history, and other significant issues that
may arise.

32. Psychiatric genetics
• Psychiatric genetic counseling is a sub-specialty within genetic counseling
focused on helping people living with a psychiatric disorder and/or their
family members understand both the genetic and environmental factors
that contributed to their illness and address associated emotions such as
guilt or self-blame.
• Genetic counselors also discuss strategies to promote recovery and
protect mental health and address any questions on chances for recurrence
in other family members.
• While currently there is no single gene solely responsible for causing a
psychiatric disorder, there is strong evidence from family, twin studies,
and genome-wide-association studies that both multiple genes and
environment interact together.
•

33. Psychiatric genetics
• Like other areas of genetic counseling, patients at all different stages
of life (pediatric, adult, prenatal) can have psychiatric genetic
counseling.
• Since the etiology of psychiatric disorders is complex and not fully
understood, the utility of genetic testing is not as clear as it is in
Mendelian or single gene disorders.
• Research has shown that individuals who receive psychiatric genetic
counseling have significant increases in feelings of empowerment
and self-efficacy after genetic counseling.
• Psychiatric genetic counselors can help "dispel mistaken notions
about psychiatric disorders, calm needless anxiety, and help those at
risk to draw up a rational plan of action based on the best available
information“.]