What are the principles of parental counselling and key areas to be covered in a patient having dmd?



Also kn as Genetic counselling


1 The relative burden of major birth defects (2–3% of all deliveries) has increased as deaths due to infection and prematurity decrease.

2 Concurrent with this trend are the genetic advances of the past few decades

3 Maternal and child health delivery systems must adapt to these trends, and integral to adaptation is a systematic approach for eliciting information about risks of genetic disorders.

4 Public and professional awareness of the importance of genetics in virtually every aspect of medicine has increased expectations that this new knowledge will be introduced rapidly into the healthcare of individuals.



A ) Advanced maternal age is the common indication


1 will you be 35 years old when the baby is due

2 have you or father or any one of the family having disorders such as -

A ) down syndrome

B ) other chromosomal disorder

C ) neural tube defects ( spina bifida , myelomeningocele )

D ) cystic fibrosis

3 do you have any close relatives with mental retardation

4 do you or any one in the family has a history of still born or 3 or more 1st trimester losses

5 if you or boy father has a jewish ancestary or have you ever screened for taysach or canavan disease

6 if you or boy father screened for sickle cell traits

7 have you or boy father have ever been tested for beta thalassemia ( meditteranean ) or alpha thalassemia ( phillipine or south eastern ancestary ) or cystic fibrosis ( northern european or caucasians )

8 are you taking folic acid supplements

9 have you also taken some over the counter drugs

10 enquiry should also be done for health status of 1st degree relatives ( siblings , parents , off spring ) or 2nd degree relatives ( uncle , aunt , nephew , niece or grand parents ) or 3rd degree relatives ( 1st cousin )

11 offsprings to father of 5th decade and beyond are at increased risk of new dominant mutations

12 ethnic origin should also be recorded


A ) Genetic screening implies monitoring a population to identify clinically normal individuals who have genotypes that are associated with a detectable disease or that may lead to that disease in their offspring.

B ) A key principle is that genetic screening should be voluntary unless specifically mandated by law.15 (Legal requirements usually dictate neonatal screening for phenylketonuria [PKU], hypothyroidism, and in some states other disorders.)

C ) Of course, voluntary screening does not mean that a physician must remain neutral or even fail to express his or her opinion.

D ) A given test should not be performed without a patient’s knowledge, however, because a patient may not wish to be faced with the dilemma of deciding among options raised by the results of the screening process.

E ) In genetic screening, one does not expect to detect all affected cases in a given population.

F ) This contrasts with case detection programs, an example of which is cervical cytologic screening.

1 Yearly Papanicolaou smears are recommended to guard against laboratory errors and the inability of physicians to correctly sample all endocervices.

2 If such pitfalls did not exist, a normal smear would categorically exclude squamous cervical cancer for about 5 years, the interval required for a normal cervix to progress through dysplasia to carcinoma.

3 By contrast, in genetic screening, one accepts failure to detect all affected infants on fetuses.

4 Establishing technical feasibility for screening a given disorder alone does not justify screening

Four prerequisites must be fulfilled FOR SCREENING

1 Capacity to alter clinical management of affected individuals

2 Ability to identify matings between two heterozygotes

3 Cost-effectiveness

4 Reliable methods of assessment of genetic status (reproducible assays)

5 Capacity to handle ancillary problems

6 Variants not requiring action

7 Potential stigmatization of heterozygotes

8 Capacity to alter clinical management

VV IMP Ideally, screening should be performed before pregnancy; however, if the patient is already pregnant, screening should be completed as early in gestation as possible to allow maximum family planning options.


I -

1 Genetic counseling is the process in which an individual or family is given information about a real or possible genetic problem.

2 In educating and counseling about genetics, the counselor must provide information in an understandable way about the nature of genetic risks and our ability to predict such risks.

A ) This depends on how a disease or condition is inherited, its severity, and other important factors, such as the interactions of environment and genetic background that must be present before a genetic susceptibility is expressed.

3 Genetic counseling is a dynamic communicative process ( VV IMP ) that begins with trying to establish a diagnosis.

A ) This involves taking a medical and family history, performing clinical examinations, and obtaining relevant laboratory tests.

B ) The counselor must then provide information regarding risks of recurrence, genetic and medical implications of the disorder, prevention, family planning, and medically managing the condition.

C ) Because genetic counseling is directly concerned with human behavior, it must be based on an understanding of the psychological meanings of health and illness, procreation, and parenthood.

SO , Genetic information can bring bad news, and the counselor must be a resource for individuals and families dealing with sadness, loss, anger, guilt, or anxiety.VV IMP

D ) The counselor has a responsibility to help individuals and families adjust psychologically and socially to their genetic condition.


1 Genetic counseling cannot and should not be provided exclusively by a single specialist but is an interdisciplinary activity.

2 There also is a growing recognition of the need to ensure that those providing genetic counseling are competent.

3 Increasingly, genetic services are being provided by primary care physicians who are not necessarily trained in human genetics.

4 In the clearest situations, the primary care physician may also be the most appropriate person to provide the counseling because he or she knows the family, their personal attitudes, and their socioeconomic background better than a consultant.

5 However, in more complex situations, the primary care physician may lack the specific knowledge, time commitment, availability of necessary diagnostic tests, or skills required for genetic counseling.

6 All who hold themselves out to the public as engaging in genetic counseling services must possess sufficient knowledge, training, and skill to provide these services in a reasonable manner.

7 Practitioners must respect the limits of their individual competence and avoid acting beyond the scope of their ability.

8 The use of a genetics team approach has been endorsed as consistent with the notions of competence and appropriately shared responsibilities.

II - Confirming the diagnosis

A ) Good genetic advice requires certainty of diagnosis; even the best counseling cannot compensate for an inaccurate diagnosis.

B ) In addition to taking a detailed family history, the proband (i.e., the family member through whom the family was identified) should be examined carefully, as should other family members at risk.

C ) If the proband is no longer living, the appropriate medical records should be sought and reviewed.

D ) The possibility of nonpaternity must also be considered.

E ) Laboratory studies needed to establish the diagnosis often include chromosome analysis; DNA studies; or biochemical tests of blood, urine, or cultured cells.

F ) Nongenetic factors can mimic genetic factors in the production of disease (so-called phenocopies); a good history and various clinical and laboratory studies may help resolve questionable cases.

III - Estimating and interpreting risks

1 It is important for the counselor to establish precisely what information the individual, couple, or family wants to know about their genetic situation.

2 People often have less interest in the label of a disorder and its mechanism of action than how tests may predict a disorder; what affect the disorder has on physical and mental functioning; and how intrusive, difficult, or effective an existing treatment or alternatives might be.

3 The counselor should strive to help the family understand the consequences of the genetic problem.

4 Perception of risk is highly dependent on the individuals’ subjective experiences and expectations and is related to the manner in which they receive the information and their experiential, emotional, religious, and situational concerns.

For example, a cleft lip may be perceived as a major tragedy by some parents. Conversely, some couples may readily accept a child with Down’s syndrome.

5 The manner in which risk figures are presented has been an important influence in how they are interpreted.

For example, telling a 35-year-old woman that her risk of having a child with Down’s syndrome is 1 in 385 might be interpreted differently than saying that she has a fourfold higher risk compared with a 20-year-old woman.

6 Recent data indicate that parents better understand magnitude of risk when comparisons are presented as rates (e.g., 2.6 versus 8.9 per 1000 women) compared with the traditional use of proportions to express risk (e.g., 1 in 384 versus 1 in 112).

7 Regardless of the actual risk and how it is presented, counselees often perceive risks as being “all or nothing” (i.e., it will either happen or not happen). Although most counselors claim to use a nondirective approach (discussed below), few deny that an element of counselor bias is always present.

8 Risk figures might usefully be presented in several alternative ways; however, beyond near-comprehension of numeric risks, genetic counseling must assist individuals in determining their own acceptable risk.

9 Therefore, the counselor must always bear in mind that for the individual, couple, or family for which the feared event actually occurs, the risk is now 100%; the gamble was lost.

10 All of this, of course, implies that the more accurate information the couple has, the more likely they are to make a final decision that is consistent with their own values.

11 As a policy matter, this conclusion underlies the doctrine of informed consent in genetic counseling and its purpose: the promotion of self-determination and rational decision making in situations that critically affect one’s own life.

IV - Communication

1 At the heart of genetic counseling lies the necessity to educate patients about the genetic facts and issues relevant to their circumstances.

2 higher an individual’s educational level, the better he or she should be able to understand complicated and unfamiliar biologic and medical concepts.

3 They also have the advantage of emphasizing that a patient’s problem is not unique and standardizes the informational content so that the counseling process is consistent.



1 Counseling couples who already have been delivered of an abnormal child requires additional appreciation for the psychological adaptations that such couples have undergone.

2 Great sensitivity and considerable investment of time are necessary.

3 Such couples are thus best managed by a geneticist who can efficiently set aside the necessary time.

4 The role of most obstetricians/gynecologists is to recognize the problem and reinforce salient genetic data.

5 Again, even if the diagnosis seems obvious, confirmation is obligatory.

6 The clinician should not merely accept a patient’s word nor even accept a diagnosis made by a physician who is not highly knowledgeable about the condition.

7 If possible, the anomalous individual should be examined. If the affected relative is still alive, cells may need to be frozen in the event that diagnosis based on DNA studies is or will be feasible.

8 Examining first-degree relatives also may be helpful if an autosomal-dominant disorder such as neurofibromatosis needs to be excluded. Alternatively, one may need to rely on medical records or laboratory tests.

9 Psychological defenses are always operative in the couple receiving genetic counseling.

10 Such defenses can impede the entire counseling process.

VV IMP 11 Anxiety is low in couples requesting genetic counseling because of parental age or because of an abnormality in a distant relative. As long as anxiety remains low, emotions are easily controlled and comprehension of information is not impaired.

12 However, couples who have experienced a stillborn infant, an anomalous offspring, or multiple repetitive abortions are understandably more anxious. Their ability to retain information, thus, may be impaired.

VI - Stages of psychological response

A ) The psychological impact of a genetic diagnosis varies with its severity, treatability, and the unique responses of different individuals and families.

B ) Indeed, psychological defenses underlie all genetic counseling. If not appreciated, these defenses can impede communication and interfere with the entire counseling process.

For example, anxiety generally is low when the risks are perceived as remote for an adverse event actually happening (counseling couples for advanced maternal age) or for an abnormality in a distant relative. As long as the anxiety level remains low, comprehension of information usually is not impaired.

C ) However, when the genetic condition directly affects the individual or a close family member, anxiety is understandably high and the ability to retain information is often hindered.

D ) The impact of diagnosing a genetic problem may be potentially devastating to an individual or family (e.g., the delivery of an infant with multiple birth defects and predicted severe mental retardation or the discovery of a mutated gene that indicates a very high likelihood of cancer developing in an individual and other family members who inherit that gene).

E ) The physician or counselor needs to recognize that individuals receiving such bad news can be expected to manifest clearly identifiable sequential coping responses in dealing with such situations.

F ) Several distinct stages can be recognized in this process.

1 The first stage is shock and disbelief.

2 Denial is a psychological mechanism in which a person attempts to maintain the integrity of his or her personality simply by denying the stressful situation. This may take the form of the individual insisting that a mistake has been made.


1 The counselor must be alert to this coping response, because frequently such individuals appear to be composed on the surface and “very mature in handling the situation”.

2 If prolonged, such a response can be self-defeating and interfere with an understanding and acceptance of a genetic problem.

3 It is also important for the counselor to recognize that during this period, the counselee usually is not able to properly assimilate important information that is being given and that must be acted on.

4 In the second stage, anger, the individual begins to comprehend the reality of the situation and attempts to deal with it at an intellectual level.

A ) Anxiety may be manifest by nervousness, irritability, hyperactivity, fatigue, insomnia, loss of appetite, or other physical complaints such as headaches and indigestion.

B ) Sometimes, this may precipitate a panic attack. Although the stressful event has been recognized at the intellectual level, the individual has not achieved a psychological equilibrium at the emotional level.

C ) The individual may become frustrated and angry. Fault may be assigned to others (e.g., spouse, affected child, physician, genetic counselor) without a rational basis.

D ) Alternatively, the anger may be self-directed and manifest by guilt.

5 The third stage of the coping reaction is depression.

A ) The symptoms of depression are feelings of worthlessness, uselessness, despair, and helplessness.

B ) Physical symptoms include loss of appetite, weight loss, fatigue, constipation, headaches, crying spells, and poor sleep.

C ) Often, individuals have early morning wakening, a time when depressive symptoms usually are heightened.

D ) The counselor must be particularly aware of severe depression that may be associated with a high risk of suicide. In such cases, psychiatric care is mandatory.

6 The fourth stage, bargaining or rationalization, occurs when an individual begins to abandon old modes of behavior and thought and reaches a new psychological homeostasis.

7 The person actively tries adaptive changes

8 This is a critical time in the genetic counseling process because the individual is most receptive to new ideas.

9 During this stage, the role of the counselor should chiefly be supportive and to encourage the counselee to evaluate self-generated alternative courses of action with regard to decision making and outcome.


1 Genetic information may not only have an impact on healthcare decisions for individuals and families but also result on a cornucopia of social and legal problems, including stigmatization, discrimination in the workplace, and loss or inability to obtain employment and health insurance.

2 For these reasons, those entrusted with obtaining genetic information have a great responsibility to maintain it in strict confidence.

3 One such problem is whether a physician or counselor has an obligation to inform potentially affected relatives of a genetic finding.

4 An analogy can be made to the legal obligation of informing sexual contacts when a venereal disease such as syphilis is diagnosed. Does the same hold true for genetic conditions? Suppose a mother learns through having an affected son that she is a carrier for Duchenne-Becker muscular dystrophy.

5 Should the physician or counselor inform the mother’s sisters, who also are at an increased risk of having affected sons?

6 The mother should naturally be urged to notify her sisters herself



I - also called as Bayesian analysis ( vv imp )

A ) It allows calculation of the probability of a particular hypothesis that either diseased or carrier status based on family information and genetic test results

B ) Genetic risk should be assessed as accurately as possible

II - Hardy weinberg principle

A ) is often used in genetic risk assessment

B ) can be used for assessing the probability of an individual who marries an autosomal recessive woman - It calculates disease allele frequency and carrier frequency

III - Mendelian genetics

A ) often used in genetic assessment especially when different pedegrees are involved

B ) a carrier has a 50 % chance of passing the mutation to offspring

IV - Non mendelian genetics

A ) Contributes in risk assessment thru calculation of denovo mutation and mosaicism

B ) Also contributes in risk assessment through calculation of genetic instability ( anticipation ) , non paternity imprinting ( epigenetics ) , positional effects of 2 or more genes ( multifactorial inheritance )

V - Consanguinity

A ) is particularly important in autosomal recessive disorders

B ) increases