MENTAL HEALTH NURSING

WOMEN AND MENTAL HEALTH

SUBMITTED TO,
SUBMITTED BY,

MADAM S. GURUNG SWAGATA

SAHA

COLLEGE FACULTY M SC (N) 1 ST

YEAR

CON, NBMCH CON,

NBMCH
COUNSELLING:
Definition: Counselling denotes “giving advice”. It is wider procedure concerned with
emotions and information.
Consultation, mutual interchange of opinions deliberating together where the troubled one or
less matured is aided to a self-determined in resolution of his problem."

Elements of counselling process:

It is a helping relationship which includes
 Someone is willing to give help.
 Capable of and trained in helping process.
 Someone seeking help.
 In a setting that permits, help to be given and received.

Counselling process involves two individuals:

Counsellor: A professionally trained person, who can assist the client, provides consultation
and guidance/ services in selection of suitable problem-solving technique to handle the stress.
He should have thorough experience and sound knowledge to bring desired change within the
client.
Counselee: A person, who seeks help and needs assistance, will develop trust and confidence
over the counsellor.

Characteristics of counselling:
 Purposeful, meaningful/ planned activities.
 Establishes satisfactory around the felt needs of counselee (tail or made)
 Avoid dictatorial attitudes.
 Everyone participating in the counselling process must feel comfortable.
 Provide situational support (family, friends).
 Warmth, friendliness, openness and empathy are ingredients of successful counselling
process.
 Counsellor has to answer questions reinforce important information.
 Give the freedom to the client to make voluntary informed decision.
 Maintain dignity of the individual.
 Non-directive lead.
Importance of counselling:
 To relieve from distress.
 Helps the client to attain a form of happiness, adjustment of the life situation.
 Aids the individual to become aware of him and the ways in which he is reaching to
the behavioural influences and his environment.
 To develop a set of goals for future behavior of an individual.
 Assist the client to accept actual or impending changes that are resulting from stress.
 It provides holistic support (moral, spiritual, emotional. psychological, and
intellectual).
 To work out a plan for solving this difficulties.
 Encourage the client to utilize suitable problem solution techniques or coping
technique.
 To develop over personality development i.e., a sense of control, independence, sense
of responsibility, special abilities and right attitudes.
 Helps the clients to identify his own interests, aptitudes and opportunities and to
overcome his difficulties,
 To develop readiness to accept the choices, changes and face new challenges.
 To encourage the client for effective utilization of manpower and for self-
employment.
 To minimize the destructive activities.

Phases of counselling:
Varied approaches will be utilized by the counsellor, based on the nature of problem,
counselee background and other extraneous factors. The phases may not follow in sequence,
some may overlap, some may continue until end; but they are progressive and collectively
described as counselling process.
1) Establishing Relationship:
Counselee and the counsellor have to establish mutual trusting relationship.
 Counsellor has to introduce the session.
 Call the client by their name.
 Listen attentively; nod the head to show a sign of understanding.
 Ensure comfort.
  Do not interrupt the counselee when he is talking or expressing his feelings openly.
 Observe verbal and non- verbal communication.
2) Assessment:
Individual or counselee was encouraged to talk about their inner conflicts openly Counsellor
interviews the client through enquiry and observes his behaviour, when they are expressing,
actively listens and feels for client to clearly state the problem, during interaction counsellor
analyses the situation through educational guess and records the events systematically and
promptly.
3) Goal setting
a. Short term/ intermediate goals.
b. Long term and ultimate goals.
Goals will be formulated by both counsellor and counselee. It provides direction to the
counselling process. It deals with commitment and set of conditions, a course of action and a
plan of outline. It helps us to know how well counselling process will be working and when
this process will be concluded. It requires skills in drawing inferences, differentiation,
realistic thinking.
4) Interventions
Counsellor has to have sound knowledge related to varied interventions related to problem
solving methodologies. Based on client's needs, goals will be formulated and counsellor with
his discretion adopts techniques, if counselee attains the needs fulfilment: shift to next need;
if goal was not attained, adopts alternative strategy.
5) Termination
Termination has to be planned over few sessions. Successful termination of counselling
process is based on progress of need fulfilment and accomplishment of goals.
6) Follow-up
Follow-up appointments have to be fixed for next implementation of plan of plan of actions
for achieving specified goals.
Premarital Counselling
Definition:
1. Premarital counselling is a therapeutic couple intervention that occurs with couples who
plan to marry (Murray and Murray 2004)
2. Premarital counselling is a skill training procedure which aims at providing information on
ways to improve their relationship once they are married (senediak 1990).
Need For Premarital Counselling
When a person is young and have never been married require by law that the individuals
under the age of 18 complete premarital counselling before the wedding.
When one partner is commitment-phobia.
When a couple cannot resolve significant issues When one or both partners have a previously
failed marriage and want to avoid repeating the same mistakes.
Difficulty handling conflicts
To educating engaged couples and newlyweds in the skills, habit, attitudes and enrichment
techniques that research shows lead to happy, enduring marriages.
Functions of Premarital Counselling:
Mainly it divides into 2 functions
1) To assist couples in developing skills to navigate their way through marriage successfully.
2) To identify areas of difference between couples that may become a source of conflict later.
Premarital Addresses the Following Areas
Interests and activities
Role expectations
Personal adjustments
Interpersonal communication
Religion and philosophy
Marriage expectations
Family issues
Finances
Parenting
Sexuality
Premarital Counselling Expectations
Compatibility
Personalities and families of origin
Communication
Conflict resolution
Intimacy and sexuality
Goal achievements.
Marital counselling:
Definition: It is the process by which a professionally trained counsellor assists a person or
persons to resolve the problems that trouble in their interpersonal relationship as they move
into marriage, live within it or make a decision to terminate it. (Godwin and mud).
(Or)
Is aimed to modify the psychological interaction between the married or cohabiting partners
who are in conflict with one another along one variety of parameters which may be social,
sexual, economic, prenatal, etc.
Problems:
Problems related to parenthood.
Single parent families.
Alternative lifestyle parenting.
Adoption.
Sexuality.
Divorce.

Indications of marital counselling:

1. Presence of unresolved conflict and stress in the relationship.
2. One partner who as changed as the result of individual treatment and which has increased
the stress in the relationship.
3. Gross distortions in the relationship which disrupt the reality.
4. One partner having mental illness, staying in equilibrium with a healthy partner through
collusive defence, which results in emergence of symptoms in the healthy partner when the
sick one starts improving.
5. During individual therapy when difficulty with the partner becomes the major focus.
6. When the marital therapy when difficulty with the partner becomes the major focus.
7. When the marital therapy may argument the gains of individual therapy.
8. Likelihood of break in relationships due to transference and countertransference.
CONTRAINDICATIONS
Unwillingness of the partner to cooperate.
Inability to control hostility by one or both partners.
The other partner having active psychosis or being emotionally fragile.
When one partner beings to decompensate in the course of marital therapy.
Manipulative partner.
Individual unwillingness to share information.
When partner consciously resists the therapeutic change.
Sessions
a) Individual or joint marriage counselling sessions which usually are from 45 minutes to an
hour in length
b) Each spouse is encouraged to ventilate his or her feelings and attitude towards himself and
his mate.
Marriage counsellor
According to American association of Marriage Counsellor should have knowledge of human
growth and development and of dynamics of human behavior and human motivation,
capacity to differentiate between normal and abnormal behavior mechanisms and
relationships within the family group.
Counsellor are found in clinics, hospitals, health centres, and government or educational
agencies. A licensed marriage counsellor is imperative.
Functions of marriage counsellor.
Informer
Assisting in client in decision making
Reorganization of behaviour
Benefits of marriage counselling:
1. Couples are made to understand what these differences are and how they can re-directed so
that they serve the marriage, not destroy it.
2. To handle a bad day and stress levels.
3. To avoid of psychological problems later.
4. Marriage counselling is beneficial to couples who are having opposing views such as
 Sexual problems
 Communication problem
 Angry to small things
  Cultural gap
 Infidelity
 Physical or mental handicaps
 Health problems
 Changing situation e.g.: retirement
5 help to prevent escalation of physical or verbal abuse.

NURSES RESPONSIBILITY
1. ASSESSMENT
It include
 History collection
 Physical examination
2 DIAGNOSTIC TESTING
a) Identify accurate genetic screening.
b) Provide important clues about possible disorders.
3 CALCULATING AND PRESENTING THE RISK
Provide information that enables client to take accurate decision
4 DISCUSSING THE OPTIONS
Diagnosis and discussed the risk of occurrence or recurrence.
5 COMMUNICATIONS AND SUPPORT
It should be a two way process, educate patient and family members about counselling.
GENITIC COUNSELLING
1. Definition
Genetic counselling is defined as the process of communication and education that addresses
concerns relating to the development and or transmission of hereditary disorders.
Genetic counselling is a communication process that deals with human problems relating to
the occurrence or risk of occurrence of a genetic disorder in a family.
2. Aims and objectives
To help the individual and family to understand the medical facts about the diagnosis course
and treatment.
To reduce the number of children of children affected with the hereditary condition by
prenatal detection of a disorder.
To reassure people who are concerned about their children inheriting a particular disorder that
their fears are groundless.
To allow the people who are affected by inherited disorders to make informed choices about
future reproduction.
To educate people about inherited disorder and the process of inheritance
To offer support by skilled health care professionals to people who are affected by genetic
illness.

3. Purposes of genetic counselling

a) To reduce the incidence of the genetic disease in the general population
b) To provide information related to medical and genetic facts
c) The genetic counselling process can facilities informed decision making and offer support
to patients and their families.

4. Types of genetic counselling

Prospective genetic counselling
Usually premarital, especially when the couples are related. This approach is mainly for
heterozygous individuals for any particular defect by screening procedures and explaining to
them the risk of their having affected children if they marry another heterozygote for the
same gene.
Retrospective genetic counselling There is a way a history of either an offspring or other
relative being affected. This counselling is mostly using and this is a hereditary disorder has
already occurred with in the family.
Expanded family genetic counselling
Usually given in chromosomal abreactions occurring secondary to balanced translocation or
inversions and in x linked conditions.
Beneficiaries of genetic counselling
A couple who has a child with a congenital abnormality or inborn errors of metabolism, any
developmental delay or mental retardation.
A couple whose close relatives have a child with genetic disorder, including those with a
child who has a congenital abnormality.
Individual who has an inborn error of metabolism or chromosomal disorder or congenital
abnormality.
Any women over 35 years of age and any man over 45 years of age.
Women who have had three or more miscarriage or infertility from an unknown cause.
Prenatal diagnosis of any genetic disorders.
People who have inherited tendency to develop cancer or neurological condition such as
Huntington's disease

Scope of Genetic Counselling

The genetic tests listed in the 1994 Report of the International Bioethics Committee of
UNESCO (IBC) to which several new DNA tests can be added in 1995, indicate that it is
possible:
- to establish a diagnosis of hereditary or congenital diseases in affected patients, with
accrued certainty and precision (e.g. mutation involved);
- to predict the probability of development of a disease in individuals or families not yet
affected (e.g. late-onset and susceptibility genes, carrier state):
- to take measures to alleviate the clinical expression of such disease, to decrease the
risk of its development and possibly prevent it (e.g. monitoring, early clinical
diagnosis, somatic gene therapy):
- to predict birth of an offspring with a genetic disease and allow decisions on the fate
of the foetus (measures to take at birth, voluntary interruption of pregnancy);
- to offer means for avoiding conception or implantation of embryos with genetic
diseases (e.g. pre-marital counselling, selective implantation, sterilization).
Genetic testing should as far as possible be accompanied by genetic counselling. The scope of
genetic counselling is to communicate information and options of the above nature to
patients, parents or family. This activity is to be considered as a medical act concerning a
diseased condition for which a patient (including the mother of an unborn child) or a family
seek help from a medical professional. It ought also to provide support in reaching decisions
about options.
Considering that genetic testing will increase as new gene probes are added for the 3,000
known genetic diseases (may be 5% of all human genes), and that there could be a tendency
for genetic screening, the extent of counselling may, however, progressively widen to:
families with histories of diseases (e.g. cancers, miscarriages, psychiatric conditions);
populations at risk due to reproductive age, environment (exposure to radiations or mutagens,
lifestyle) or geographical considerations (areas with high prevalence of genetic disease, such
as å-thalassemia in Cyprus, Sardinia, or such as Tay-Sachs disease in Jews of Eastern Europe
origin);
population at large (screening programs, "supermarket" genetic testing), with all the concern
this may raise and which need to be weighed against health benefits.

The Needed People

Persons who seek counselling include individuals who have recently discovered a genetic
defect in themselves Those from ethnic or racial groups at high risk for specific
genetic disease.
Individuals who wish to marry but who know of hereditary problems possibly having a base
in one or both of the families
Mothers of age over 35years
Parents who have had one child with a birth defect and worry for the prospects of another
Those who had exposure to a substance that could cause defects in a child.
Genetic Counselling Team
It is beast offered in a team setting that enables patients to receive sophisticated care from
health professionals who specialize in caring for patients at risk for genetic diseases. The
medical genetics team can include:
a physician geneticist
a general counsellor
a cytogeneticist
a neurologist
a psychiatrist
a paediatrician
an obstetrician
a nurse
a social worker.
Because so many specialists may be involved in diagnosing a genetic condition, patients
should be told that they will be seen by several people and that their genetic workup will be a
group effort. The lives of those affected and their apparently normal siblings may be changed
after learning more about their chances of having normal families in the future.

Steps In Genetic Counselling:

Genetic counselling aims to help the individual or family understand the medical facts about
the diagnosis and the course and treatment of the condition. The counselling assists the family
in understanding how hereditary contributes to the problem and points out the alternative for
dealing with the recurrent risks, selecting the best course of action for them to follow in their
particular situation, and adjusting to whatever problems they face at present or in the future.
When an individual or family desires genetic counselling, the first step is to identify their
needs that is their expectations and concerns about the disorder in question. They may want
to know its cause, the possibility of recurrence, the possibility of prevention, and the expected
prognosis. Clients at this time need continuing emotional support.
The second step involves taking the family history and the history of the pregnancy, if
appropriate. When a disorder having a genetic basis is in question, a detailed family history is
essential in the formulation of the family pedigree. A complete pedigree includes second- and
third-degree relatives. An outline for a family health history, the "Family Medical Record",
can be obtained and can be completed prior to the counselling session. The maternal fatal
history can provide information on drug ingestion, infections, or environmental contaminants
to which the mother was exposed during pregnancy. Information can also be obtained
concerning the events at birth and post-natal.
The third step is to establish the diagnosis. To accomplish this goal, a physical examination
is required of the affected individual and appropriate family members, in addition to various
diagnostic procedures.
The fourth step in counselling is communicating the information learned to the concerned
persons. This information may include the diagnosis, estimates or risk of recurrence, course
of the condition, possible therapy, and prognosis, Information can also be given concerning
whether future reproduction should be considered or whether the alternatives such as
contraception, sterilization, artificial insemination or adoption would be wise. If prenatal
diagnosis is a possibility for the condition, this also should be discussed.
The last step in the counselling process is helping the concerned individual or family to
adjust psychologically to the information. Any negative emotions, such as guilt or anxiety,
should be discussed and, if possible alleviated. This can be accomplished partially by helping
the individual or family recognize that these are common emotions felt by others under the
same circumstances. Often discussions of community resources for health care, sources of
financial aid, and locations of interested parent groups are appreciated.
In genetic counselling of a family, both parents should be present at the discussions to prevent
misinterpretations. The conferences should be scheduled in a private room without the
presence of the affected child (if any) who might be traumatized by the emotional tone of the
discussions. Important points made in the meetings should be summarized and shared with
parents to provide a basis for later conferences. Memory difficulties may occur in any crisis
situation, and such sharing can help clarify misinterpretations that may arise. The parents may
wish to include their teenage children, if any, in these conferences so that they too can know
what may lie ahead for them.
Genetic counselling is generally nondirective in nature. The counsellor has the responsibility
for presenting information, but it is the individual and family group who discuss its
significance to their situation.
Diagnostic Methods That May Be Used in Genetic counselling
Pre-conception screening
Family history to identify hereditary patterns of disease or birth defects
Examination of family photographs
Physical examination for obvious or subtle signs of birth defects
Carrier testing
Persons from ethnic groups with a higher incidence of some disorders
Persons with a family history suggesting that they
may carry a gene for a specific disorder
Chromosome analysis
Prenatal diagnosis for feotal abnormalities
Chorionic villus sampling
Amniocentesis
Ultrasonography
Percutaneous umbilical blood sampling
Post natal diagnosis for an infant with a birth defect
Physical examination and measurements
Imaging procedures
Chromosome analysis
Tests for metabolic disorders
Immunological testing for infections
Autopsy
Problems Encountered in Genetic Counselling and Prenatal Diagnosis
Inadequate medical records
Family members refusal to release records
Records that are incomplete, vague or uninformative
Inconclusive testing
Too few family members available when family studies are needed
Inadequate number of live fetal cells obtained during amniocentesis
Failure of foetal cells to grow in culture
Ambiguous prenatal tests results that are neither clearly normal nor clearly abnormal
Unexpected results from prenatal diagnosis
Finding an abnormality other than the one tested
Non-paternity revealed
Inability to determine the severity of a prenatally
diagnosed disorder
Inability to rule out all birth defects
Principles of Genetic Counselling
Whether one is acting as a nursing member of a genetic counselling team or as a genetic
counsellor, some common principles apply.
The individual or couple being counselled needs a clear understanding of the information
provided. People may listen to the statistics of their situation. ("Your child has a 25% chance
of having this disease") and misinterpret what they hear. They can construe a "25% chance" a
mean that if they have one child with the disease, they can then have three normal children
without any worry. A 25% chance, however, means that with each pregnancy, there is a 25%
chance the child will have the disease (chance has no "memory" of what has already
happened). It is as if the couple has four cards, all aces, with the ace of spades representing
the disease. When a card is drawn from the set of four, the chance of its being the ace of
spades is 1 in 4 (25%). This principle applies to the first pregnancy and any future
pregnancies. When couple is ready to have a second child, it is as if the card drawn during the
first round is returned to the set, so the chance of drawing the ace of spades in the second
draw is exactly the same as in the first draw. Similarly, the couple's chances of having a child
with the disease remain 1 in 4 in the second pregnancy.
It is never appropriate for any health care provider to impose his or her own values or
opinions on others.
Individuals with known inherited diseases in their family must face difficult decisions, such
as how much difficult decisions, such as how much genetic testing to undergo or whether to
terminate a pregnancy that will result in a child with a specific genetic disease. Couples need
to be aware of all the options available to them. Then they need to think about the options and
make their own decisions. Couples always should understand that nobody is judging their
decision, because it must be one with which they can live.

Psychological And Legal Aspects of Genetic Counselling

1. Cultural and religious considerations:
Cultural and religious values play an important role in an individual's approach to genetic
counselling, and nurses should make every effort to view patients within the social
framework of their particular family. If a person comes from a large extended family, for
example, and is expected to bear children as soon as he or she is married, any inability to
reproducer healthy children can be particularly traumatic. In initiating an informational
session about genetic issues, the nurse should attempt to provide a supportive, nonjudgmental
environment that will encourage patients to share their questions and concerns freely.
The nurse needs to determine what a couple's religious values and practices are and to
organize the information offered accordingly. In working with a catholic or an orthodox
jewish couple, the use of the term abortion may be counterproductive; the word termination
might have less emotional overtones. The nurse should guard against allowing her own
personal and religious values to unduly influence the way she presents genetic infor nation.
Although all health. professionals risk presenting information in a biased manner, imposing
one's values to another person's family planning is to say the least, unprofessional.
2. Economic considerations
Economic factors strongly affect a family's attitude toward their reproductive potential. When
the birth of a chronically ill child is a possibility, parents need to be a made aware of the
financial responsibilities the child's condition will involve and to have an open discussion of
the natural history of the disease as well as its potential impact on the family structure. Few
medical conditions threaten the fabric of the marital relationship as much as a defect that is
transmitted by parents to their offspring. Historically, women have been considered
responsible for their children's abnormalities, and even when presented with evidence to the
contrary, couples often cannot accept the truth. The presence of an imperfect gene in a family.
implicates members of the extended family as well, especially the grandparents. Sides are
quickly drawn and harsh words often exchanged about "The other side of the family".
3. Effects on family functioning
A diagnosis of genetic disease usually has a major impact on family functioning. The
associated distress is expressed in a different way by each family, but a variety of coping
mechanisms will be developed by each member of the nuclear family in an attempt to
manage this distress. The birth of an effected child may bring about a tremendous change in
the parent's self-image which renders the marital relationship particularly vulnerable. Caring
for an affected child provides a daily remainder that the marital partnership is responsible for
the affected child and his or her future. Divorce and sexual dysfunction are common sequelae
when poor communication between parents and inadequate social supports produce an
environment in which the parents are unable to maintain their sense of personal worth
When a dominant condition is diagnosed or a chromosomal problem is known to be
transmitted from one parent only, the sense of guilt experienced by responsible parent can be
intense. The partners anger or frustration can be equally damaging. These feelings are often
suffered in silence, and a nurse working with such a couple must explore these possible
reactions sensitively and attempt to help both partners ventilate their feelings as they learn to
cope with this new image of themselves. Not everyone will feel comfortable discussing such
emotionally charged areas. The nurse who does not feel confident of her ability to engage in
discussions at this level would do well to suggest a referral to another health professional,
preferably a genetic counsellor experienced in dealing with families at risk for transmitting a
genetic condition.
4. Confidentiality
Confidentiality should be provided for patients in all areas of medical service. It is
particularly important to families seeking genetic counselling. Because flaws in one's genetic
makeup arouse powerful feelings of vulnerability, patients seeking genetic counselling need
to be openly assured that the information they provide about themselves and their family will
be kept in the strictest confidence. Patients need reassurance that no information will be
shared with employees, since genetic screening in the workplace is a matter of company
policy in some instances and therefore of increasing concern to the employee.
A genetic diagnosis requires complete documentation of a family's medical history when
patients first come for genetic counselling, the counsellor must raise the issue of assembling
information from the extended family and help the clients to appreciate the value of sharing
the diagnosis with family members. Providing relatives with information they would not
otherwise have can prevent serious medical complications. For example, when cystic fibrosis
is diagnosed in a family, other members of the family need to be altered to the fact that the
cystic fibrosis gene is carried in the family. The diagnosis of polyposis of the colon, a
precursor to cancer, should also be shared with family members because early detection and
treatment of this condition greatly improve the prognosis. Genetic counsellors face an ethical
dilemma when individuals refuse to share information about genetic susceptibility with
members of their extended family. There is a fine line between the patients right to privacy
and the counsellor’s responsibility to family members who have not sought his or her help. In
general patients who refuse to share a genetic diagnosis with their family do so because of the
fears that this information will result in their being labelled or stigmatized by the family.
5. Informed consent
The concept of informed consent permeates most areas of medical care today. In the context
of genetic counselling and screening, it is particularly important that, at the center of the
shared process of decision making about issues of reproductive life, there should be a truly
informed patient- one who understands not only the genetic information on which a diagnosis
was based but also the implications of that diagnosis for the family and the potentially
affected child.
The question of informed consent raises another important issue in genetic care that is
somewhat unusual in the medical service field, namely, patient autonomy. Genetic decision
making is a uniquely personal affair. Reproductive choices that result in the birth of a child
who will be cared for by an individual couple are viewed by society as the unique-
responsibility of that couple, even though their decision may eventually involve public
responsibility for the medical care for the child. The prevailing concepts of medical care also
dictate the right of individuals to make these choices independently, unburdened by the overt
influence of health professionals. Genetic counselors generally support the concept of
nondirective counseling and are conscientious in their effort to make clear to patients that
they have the right to refuse any genetic screening or diagnostic procedure. The educational
responsibilities of genetic counselors include explaining these patients rights. Clearly.
informed consent can only be exercised when adequate medical information has been
provided.

Scientific Issues in Genetic Counselling Genetic Technologies

It is important to distinguish between "proof-tested" technologies and new or emerging
technologies. This distinction applies both to the type of genetic test available to the
counsellor, and to the type of human sample on which the test is being done. The new
technologies multiply the number of options that the counsellor can point out to the
counselee, and often make these options more problematic than in the past. As a researcher
stated: "(...) with genetics, the technology far precedes the response to what we are going to
do with the technology".
Types of genetic tests
Proof-tested technologies such as cytogenetics, karyotyping, enzyme tests, are being
supplemented by numerous molecular gene probes. The gene probes can detect
polymorphisms which have been associated with genetic. diseases, and indicate who
inherited such "pathologic" chromosome fragments and who has a non-pathologic DNA
polymorphism. However, it becomes clear that many mutations can occur in genes related to
a disease and that the significance of each such mutation may be different in terms of clinical
disease.
Gene Categories in Counselling
The public information about gene mutations related to diseases grows rapidly, mainly as a
result of the Human Genome Project, but is not always presented in a way which allows to
understand the meaning of the gene pathological function and even less of its normal
function. The equation "gene disease" is often perceived without qualification, so that it may
be useful to classify genes in order to qualify their relation to clinical pathologies. A proposal
is made to distinguish genetic alterations in at least 5 groups, each with differing meanings
for genetic counselling.