Genetic Counselling

Introductory article
Article Contents

Susan E Phillips, Eastern Virginia Medical School, Norfolk, Virginia, USA

. Definition of Genetic Counselling

Genetic counselling is a vital part of the field of medical genetics. Genetic counsellors are
trained in the fields of genetics and psychosocial counselling, and act as advocates for
families affected by genetic disorders, helping them to understand the concepts of
heredity and assisting them in planning for treatment of affected individuals as well as
providing options for future offspring.

Definition of Genetic Counselling

Long before the terms genetics and heredity were coined,
families recognized that certain traits passed from one
generation to the next. Many myths and folk tales
surrounded such occurrences. Often marriages were
forbidden or arranged to prevent traits such as bleeding
(haemophilia) from being passed on. Judgements stemmed
from mere observation of the occurrence of these traits
without the benet of mendelian laws of genetics. In its
original form genetic advising consisted of preventing
certain individuals from marrying and reproducing.
The Dight Institute for Human Genetics, established in
Minnesota in 1941, was the rst organized eort to assist
families with children aected by genetic diseases or birth
defects. Consultations with families originated with the
thought of gaining information for future studies in
genetics. Families at the Institute asked for advice
regarding their situation, where often multiple family
members were aected by a particular disorder. After years
of consultations with families, however, Dr Sheldon Reed,
in 1947, suggested the term genetic counselling for the
services provided by the Dight Institute. Physicians
provided this service as most genetic conditions have
medical implications. Genetic counselling fell under the
guise of public health and epidemiology. Physicians relied
on empirical data to quote recurrence risks to families.
The discovery of the structure of deoxyribonucleic acid
(DNA) in 1953, the chromosomal basis of Down syndrome
in the late 1950s, and the rediscovery of Mendels work
catalysed an explosion in the understanding of genetics and
heredity. In the early 1970s the technique of amniocentesis
allowed prenatal diagnosis of chromosome abnormalities
and certain biochemical disorders. The development of
molecular genetic technology in the past two decades has
increased our knowledge of DNA and single gene
mutations exponentially. The Human Genome Project, a
collaborative eort of the 1990s to sequence the entire
human genome, currently identies new disease genes
regularly. This explosion of knowledge has led to the need
for trained individuals who can interpret complex information for families and help them to understand its
implications. Thus the eld of genetic counselling as a

. Need for Genetic Counselling

. Principles of Genetic Counselling
. Empirical Risks
. Reproductive Options
. Training Programmes

profession was born. The rst class of genetic counsellors

graduated from Sarah Lawrence College in 1971.
Modern genetic counselling is a communication process
between a healthcare professional trained in genetics and
an individual or family aected by or at risk for an
inherited disorder. The goals of this process include
promoting awareness of the medical facts of the condition,
understanding the role of heredity in the expression of the
condition and its risk of recurrence, discussing the options
available for dealing with the disorder, and assisting
families in choosing the options that are most appropriate
for them. By denition, genetic counselling is nondirective.
This means that counsellors provide the family with all the
available options free from the biases of an individual
counsellor or from preconceived ideas the counsellor may
have about the family. The counsellor must assist the
family by allowing them to express all their fears and
concerns in a nonthreatening atmosphere. Genetic counsellors assist families in coping with the emotional burden
of caring for a child with a chronic handicapping condition
by assessing their coping skills. A genetic counsellor helps
families to address issues that may be far reaching, as the
information covered in a genetic consultation may impact
other family members who are not present at the time.

Need for Genetic Counselling

Healthcare providers must identify individuals or families
who would benet from genetic counselling services. This
responsibility often falls on the primary care provider
(PCP). The PCP may be a paediatrician, family physician
or obstetrician/gynaecologist. Therefore, it is imperative
that these healthcare providers receive training in basic
genetic concepts and recognize which patients would
benet from referral for genetic consultation. PCPs should
refer any individual, family or couple who has:
. given birth to a child with a congenital anomaly or
known genetic disease;
. a family history of an inherited condition;
. a family history of intellectual impairment or developmental delay;

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Genetic Counselling

. a child with short stature, growth delay or overgrowth

syndrome;
. a child with a chromosome abnormality;
. a history of infertility or multiple pregnancy losses;
. a strong family history of cancer;
. a pregnancy at age 35 years or older.
Each group noted above can benet from counselling
services in varying ways. The rst group mentioned are new
parents who have just learned that their baby has a serious
and possibly life-threatening condition. Initial thoughts
often expressed are: Why did this happen and was there
something I did to cause it to happen?. Trained genetic
counsellors help to allay some of these initial fears. They
take time to ensure that families understand the known
causes of the condition or the sporadic nature of a defect
that is perhaps not well understood. Others referred for
consultation may wish to know their risk of genetic disease
given a documented family history. Couples who suer
from infertility or recurrent pregnancy loss may wish to
know what options exist to help them achieve a pregnancy.
Because pregnant women who are 35 years of age and older
are at increased risk for having a child with a chromosome
abnormality, they need genetic counselling to understand
the actual risks of chromosomal aneuploidy and the
options for prenatal diagnosis. These couples frequently
require information and assistance in deciding whether or
not to pursue this type of testing.
Most major hospitals in the United States and in many
other countries oer genetic services. Counsellors may be
part of the paediatrics department, a maternalfetal
medicine department, oncology department or neurodevelopment centre. Each of these groups may have one or
more genetic counsellors, based on the volume of patients.
Some genetic counsellors work for private corporations.
Commercial laboratories hire genetic counsellors to assist
in the interpretation of genetic test results. A few genetic
counsellors work in private practice and assist any family
referred to them. All counsellors work as part of a team of
healthcare providers, which may include physicians
trained in genetics, nurses, social service case managers
and others.

provided to the family could be inaccurate and thus

inappropriate, and could result in further harm. To
determine a diagnosis, the genetics team must gather
information. The rst step in a consultation involves
eliciting a detailed family history with pedigree construction for at least three generations. Counsellors perform this
task, paying careful attention to occurrences such as
unexplained infant deaths and multiple pregnancy losses.
Counsellors may need to request medical records or
autopsy results on relatives with a known or suspected
diagnosis. A positive family history helps to support a
suspected diagnosis. Often, however, the patient in
question is the rst person in the family to be aected,
the index case. A negative family history can also help in
the interpretation of inheritance patterns.
Counsellors pay careful attention to a mothers pregnancy when assisting in the evaluation of a newborn or
young child. Questions regarding the womans reproductive history, illnesses during her pregnancy, possible
exposures to teratogens (substances known to increase
risks of birth defects) at work or in the home, and any
underlying medical conditions may help in determining a
cause for the childs condition. As the consultation
continues, questions regarding the childs attainment of
developmental milestones help in pinpointing whether the
condition was present prenatally or developed postnatally.
Each aected individual should have a detailed physical
examination by a physician trained in dysmorphology (the
identication and interpretation of patterns of structural
defects). This examination may indicate the necessity of
evaluating other family members for signs of an inherited
condition.
After analysis of the information gained during the
consultation, the genetics team may order diagnostic
testing for a suspected condition. Counsellors inform
families of the benets, risks and limitations of such testing
before testing begins. Counsellors assist families in understanding the informed consent process. They must ensure
that families comprehend the ramications of test results,
whether they are positive or negative. This complete
evaluation can establish a diagnosis of an inherited
condition, but may also rule out heredity as a cause and
greatly reduce a familys risk of recurrence.

Principles of Genetic Counselling

To provide appropriate information for families, genetic
counsellors follow several guiding principles. These
include providing an accurate diagnosis, education of
family members, supportive counselling, and follow-up.

Diagnosis
The single most important aspect of genetic evaluation is
that of establishing an accurate diagnosis for the aected
individual. Without this cornerstone, the information
2

Education
After establishing an accurate diagnosis, counsellors begin
the process of educating the family. The genetics team
shares with the family the known and unknown aspects of a
particular disorder. Important topics for discussion
include the incidence of the condition in the general
population, its natural history, prognosis for aected
individuals, and existing treatment and/or management
options. Counsellors assess the level of comprehension in
the family. Explaining medical information requires

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Genetic Counselling

technical terms and counsellors must vary the method of

delivering complex information to ensure patient understanding.
For inherited disorders, a discussion of the mode of
transmission is essential. Simple drawings of dominant,
recessive and sex-linked inheritance are often helpful. As
the family assimilates the information, the realization that
the condition could occur again prompts questions on
actual recurrence risks. For genetic conditions the recurrence risks can be as high as 50%, or 1 in 2, for a fully
penetrant, autosomal dominant disorder. Recurrence risks
may be no higher than the occurrence in the general
population for sporadic conditions. For multifactorial
birth defects (caused by genetic and environmental factors)
such as isolated neural tube defects, the recurrence risks are
based on empirical data and usually range between 3% and
10%. Counsellors often use the technique of quoting the
chance for having a child without the disorder in a future
pregnancy. For example, when a couple has had a child
with cystic brosis they would have a 25% recurrence risk
in any future pregnancy. They would also have a 75%
chance of having a child without cystic brosis. If
counsellees cannot comprehend percentages, counsellors
must utilize other methods for relaying this vital information.
Sometimes it is impossible to pinpoint the exact
inheritance of a disorder. In these instances it becomes
more appropriate to quote a range of risk. Even in
seemingly straightforward cases, additional information
gleaned from the family history may modify a familys
recurrence risks. For some conditions, genetic test results
may not identify 100% of aected or carrier individuals. A
negative test result does not mean that an individual is free
from that diagnosis. Counsellors often utilize complex
statistical analyses for better denition of recurrence risks
within a family. A complete evaluation may reveal that
there is no increased risk of recurrence within the family.
There may be other explanations such as an infectious
agent, a teratogen, or merely a sporadic event. This
information is vital for families as well.
When an established recurrence risk exists, a discussion
of reproductive options ensues. Families often base their
decisions for future pregnancies on the perceived burden of
the disorder on the family. A familys perceptions,
however, are often shaped by their cultural background,
lifestyle, economic status, and previous experience with the
particular disorder. Counsellors attempt to assist families
in examining all these issues and to guide them in choosing
reproductive options that are most appropriate for them.

Supportive counselling
While the medical and scientic information is of utmost
importance, perhaps the greatest concerns of the family lie
elsewhere. Upon learning that a newborn has a genetic

disease or a major birth defect, a parents rst reaction may

be one of guilt or shame, followed shortly by grief and
anger. The couple has lost the normal baby they planned
for. These parents experience a mourning process very
similar to that seen with a stillbirth or infant death. The
emotional burden of coping with a chronic, handicapping
condition is tremendous. Genetic counsellors address these
issues with families, provide supportive counselling, and
help families to identify resources for dealing with the
diagnosis.
Counsellors help families to express the concerns and
feelings they have surrounding a diagnosis. Often feelings
of guilt, denial, anger, depression and concerns about
potential discrimination surface. Counsellors validate
these emotions and assure families that they are quite
normal under the circumstances. Counsellors respect the
individuality of each family member and recognize that
each one may express dierent emotions at dierent times.
Assessment of family support systems and coping skills
helps to guide families in working through the grief
process.
Due to the inheritance of certain conditions, families
may need to share important and possibly life-altering
information with extended family members. The condentiality of genetic information prevents counsellors
from contacting anyone other than those being counselled
unless they obtain written permission. Counsellors emphasize the importance of sharing this information and
assist individuals in determining how and when to contact
other family members at risk.

Follow-up
The nal step in the genetic counselling process is that of
follow-up. Counsellors often summarize the important
medical and genetic information in a letter to the family so
that it can be accessed at any time. This aids in understanding as the material can be studied in a less stressful
atmosphere. Inclusion of the results of tests that conrm
the diagnosis is helpful for future generations. Individuals
are encouraged to return for further counselling if
questions arise or emotional issues become overwhelming.
Because of the psychological impact of genetic disease
and its long-term eects on families, counsellors make
referrals to other professionals when appropriate. Referrals to local clergy, mental health professionals and social
service agencies may be benecial. In addition, national
and local support groups exist for many genetic disorders
and provide up-to-date information to members. Counsellors often handle requests for family to family contacts
so that experiences can be shared.
As the Human Genome Project and technological
advances enhance our knowledge of individual genes, the
number of clinical tests for genetic disorders will increase
exponentially. Counsellors often recommend that families

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Genetic Counselling

recontact them periodically to learn whether any new

treatment, such as gene therapy, has become available. An
individual seen 5 years ago and diagnosed with a genetic
disorder may benet from information provided by a new
diagnostic test. Other family members may be relieved to
know that carrier testing or prenatal diagnosis for the
condition is now available. Counsellors should notify
families as new treatments, such as gene therapy, become
available.
The process of genetic counselling is a multistep one
which may require multiple visits. Families need time to
digest the information provided with ample opportunity to
have all their questions answered and concerns addressed.
The term nondirective describes the genetic counselling
process. This means that the interaction between counsellor and client is free from counsellor biases and from
coercion by healthcare providers to choose a course of
action. Counsellors discuss all aspects of a condition as well
as the known benets, risks and limitations of testing or
treatment options. Careful attention is paid to family value
systems. Counsellors support families in the choices they
make, recognizing that there are no right or wrong answers
just dicult decisions.

Empirical Risks
One of the most important facts that genetic counsellors
share with families is that in every pregnancy there exists a
chance for having a child with an identiable birth defect or
inborn error of metabolism. This risk is referred to as the
general population risk for birth defects, which is
approximately 35%. These numbers stem from empirical
data of observed numbers of aected individuals from
population studies. On rst glance the numbers appear
high, but included in the risk are minor malformations such
as polydactyly (extra digits). These minor ndings are quite
common, whereas major malformations (e.g. congenital
heart defects, cleft lip and/or palate) occur much less
frequently. Attending paediatricians should seek a genetics
consultation for any child born with one major malformation or three or more minor malformations.
Common birth defects may be sporadic or may have an
identiable inheritance pattern. Table 1 lists some common
malformations, their incidence in the general population,
and recurrence risks for future ospring. Recurrence risks
vary greatly depending on the number of aected family
members and whether a particular mode of inheritance has
been established. For sporadic cases such as amniotic band
sequence and limb body wall sequence, recurrence risks
generally do not exceed observed population risks. For
multifactorial defects both genetic and environmental
inuences play a role. Recurrence risks are lower than for
mendelian traits but may be as high as 35%. The
recurrence risk increases if multiple individuals in a family
4

express the trait and decrease as the degree of relationship

to the aected individual lessens. For example, siblings
would have a higher risk of recurrence than rst cousins.
Disorders with traditional inheritance patterns carry
higher recurrence risks. When a couple has a child with any
autosomal recessive disorder, the risk for future children is
25%. Carrier testing and prenatal diagnosis for many
recessive disorders are available today. For many more
recessive disorders no gene test is yet available and couples
must decide whether to take a 1 in 4 chance of having a
second aected child. Some of the most common recessive
disorders include: cystic brosis, sickle cell anaemia, a1antitrypsin deciency and TaySachs disease.
Autosomal dominant conditions pass directly from one
generation to the next with a 50% risk of recurrence.
Factors such as new mutations, variable expression and
reduced penetrance often prevent accurate diagnosis. A
number of dominant disorders present later in life so that
aected individuals may already have children or grandchildren. Common dominant disorders include: neurobromatosis, Huntington disease and familial adenomatous
polyposis. Commercial laboratories now oer testing for
these and other dominant disorders.
For sex-linked conditions the disease-causing gene is
located on the X-chromosome. Males with a disease gene
on their only X-chromosome will express the gene. They
always inherit this gene from their mothers. Females,
having two X-chromosomes, generally do not express the
gene as they have a normal gene on their second Xchromosome. Females who are carriers of sex-linked genes
have a 50% chance of passing the gene to any of their
ospring so that 50% of their sons will be aected and 50%
of their daughters will be carriers. Because sex-linked
conditions often result from fresh gene mutations (the rst
occurrence in a family), recurrence risks may be modied if
only one individual in the family is aected.
Other nontraditional modes of inheritance can confound the counselling process and may actually prevent the
precise calculation of recurrence risks. Disorders of
mitochondrial DNA, genomic imprinting and uniparental
disomy are some examples of nontraditional inheritance.
Recurrence risks for these types of disorders are often low
but may be higher than the general population risk.

Reproductive Options
A multitude of reproductive choices now exists for families
who nd themselves at an increased risk for having a child
with a genetic disease or birth defect. Available options
include screening tests, invasive diagnostic tests, and a wide
range of assisted reproductive technologies. Genetic
counsellors educate families about all their options as well
as the benets, risks and limitations of each option.
Counsellors must obtain informed consent before testing
can begin.

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Genetic Counselling

Table 1 Incidence and recurrence risks for common malformations

Malformation

Incidence

Recurrence in next child

(%)

Cleft lip with or without cleft palate

Cleft palate only
Clubbed foot
Congenital heart defect (isolated)
Dislocation of hip
Hypospadias
Neural tube defect
Pyloric stenosis

1 in 1000
1 in 2500
14 in 1000
1 in 200
15 in 1000
1 in 150 males
1 in 1000
1 in 330

37
25
3
13
6
78
35
410

For example, any couple at a high risk for having a child

with a chromosome abnormality or detectable single gene
defect may choose prenatal diagnosis by amniocentesis at
approximately 16 weeks gestation (Figure 1) or chorionic
villus sampling as early as 10 weeks of pregnancy (Figure 2).
Normal test results have the potential to relieve tremendous anxiety and allow couples to relax for the remainder
of the pregnancy. If testing reveals an abnormality, the
couple must consider what to do with that information.
Counsellors take great care when delivering this information to families. While being nondirective, counsellors
discuss the impact of having an aected child. Some
couples may choose to continue the pregnancy and prepare
for the birth of an aected child. Others may decide that
they wish to terminate an aected pregnancy. This is one of
the most dicult and emotional decisions a couple may
ever face. Genetic counsellors assist families in making a
choice that best accommodates their beliefs and values.
Some families would never choose to end a pregnancy
regardless of prenatal test results due to ethical, moral and/
or religious beliefs. Often these couples will decline

Figure 1 Amniocentesis.

Figure 2 Chorionic villus sampling (CVS). A, transabdominal approach to

CVS. B, transcervical approach to CVS.

prenatal diagnosis and take the risk of having an aected

child. However, some would choose to proceed with testing
so that they might ready themselves for dealing with the
situation at, or possibly before, delivery. For certain
disorders prenatal treatment may exist. These situations
are rare but counsellors discuss these options with families.
If no antenatal treatment is available, counsellors assist
families in creating a management plan for their newborn.
Taking families for a tour of the neonatal intensive care
unit and arranging consultations with neonatologists and
surgeons before delivery allows parents to make treatment
choices in advance.
Other families make a decision to terminate an aected
pregnancy. Counsellors discuss the methods of pregnancy
termination and any risks posed to the mother. Depending
upon the centre performing the termination, parents may
have some options regarding this procedure. In the United
States, state laws govern the gestational age at which
termination is no longer an option. This varies between
states but generally the limit is 2024 weeks gestation.
Physicians perform two types of pregnancy termination in
the second trimester of pregnancy. The rst option is that
of an outpatient surgical procedure known as dilation and

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Genetic Counselling

evacuation (D+E). The second procedure involves induction of labour and delivery. There are advantages and
disadvantages to both procedures, and counsellors address
these issues with families as well. Whatever choice a couple
makes, they will need supportive counselling, which
genetic counsellors provide.
Some families with one aected child may desire future
healthy children but pregnancy termination is not an
option for them. In the past these couples had only two
options: to attempt a pregnancy and hope for an unaected
child, or adopt a healthy child. Often these couples would
choose methods of permanent sterilization to prevent
further aected ospring. There are other options available for them today. Assisted reproductive technologies
give these couples more choices. If one or both parents
carry a single gene mutation they may choose to use donor
sperm or donor egg to conceive a pregnancy. Genetic
testing can assure couples that the donor does not carry the
known mutation.
The most recent technology, preimplantation genetic
diagnosis (PGD) allows genetic testing as an embryo
reaches the six- to eight-cell stage of development. The
procedure begins with standard in vitro fertilization
techniques. As the embryo reaches the six- to eight-cell
stage, technologists remove one cell and analyse it for the
presence of a mutant gene, a chromosome abnormality or
fetal sex if a sex-linked disorder exists (Figure 3). Several
centres in the USA and abroad currently oer PGD for
chromosomal aneuploidy, inherited unbalanced translocations, and common single gene disorders such as Tay
Sachs, thalassaemia and cystic brosis. The applications
for PGD are wide ranging as molecular technologies
increase our ability to identify more and more diseasecausing mutations.

Figure 3 Embryo biopsy for preimplantation genetic diagnosis. Courtesy

of Dr Susan Lanzendorf, Eastern Virginia Medical School, Norfolk, Virginia,
USA.

encouraged to sit for board examinations administered

by the American Board of Genetic Counseling.
The National Society of Genetic Counsellors boasts
1500 members from many dierent countries. Employers
include university-based programmes, private hospitals,
prepaid health plans, diagnostic laboratories and government-supported health agencies. These counsellors often
specialize in particular areas. More than half work in
prenatal diagnosis. Approximately 20% work in a
paediatric setting. Only 1% specialize in adult-onset
genetics. The fastest growing group, cancer genetics
counsellors, comprises almost 10% of all board-certied
counsellors. For more information on specic training
programmes, contact the National Society of Genetic
Counsellors (NSGC) at: nsgc@aol.com for e-mail or
NSGC Executive Oce, 233 Canterbury Drive, Wallingford, Pennsylvania 19086, USA, or view the NSGC
website at: http://www.nsgc.org.

Training Programmes
Genetic counsellors enter the eld from numerous
disciplines including the elds of biology, nursing,
psychology, public health and social work. Most counsellors graduate from accredited programmes in genetics or
genetic counselling. Currently there are a total of 26
training programmes accredited by the American Board of
Medical Genetics. Twenty-two are in the USA, two in
Canada, one in the UK and one in South Africa. These
programmes emphasize basic science concepts in medical,
biochemical and molecular genetics as well as statistical
analysis, and psychosocial counselling skills. Each programme accepts approximately four to ten candidates each
year, with the number of new graduates exceeding 100.
Graduates earn a Master of Science degree and are

Further Reading
Emery AEH and Rimoin DL (eds) (1997) Principles and Practice of
Medical Genetics, 3rd edn. Edinburgh: Churchill Livingstone.
Fuhrmann W and Vogel F (1983) Genetic Counseling. New York:
Springer.
Harper PS (1988) Practical Genetic Counselling, 3rd edn. London:
Wright.
Leonard CO, Chase GA and Childs B (1972) Genetic counseling: a
consumers view. New England Journal of Medicine 287(9): 433439.
Reed SC (1974) A short history of genetic counseling. Social Biology
21(4): 332339.
Robinson A and Linden MG (1993) Clinical Genetics Handbook, 2nd
edn. Boston: Blackwell Scientic.
Thompson MW, McInnes RR and Willard HF (1991) Thompson and
Thompson: Genetics in Medicine, 5th edn. Philadelphia: WB Saunders.

ENCYCLOPEDIA OF LIFE SCIENCES / & 2001 Nature Publishing Group / www.els.net