PATIENTS WITH GENETIC DISEASES FAMILY MEMBERS OF PATIENTS
PATIENTS WITH GENETIC DISEASES FAMILY MEMBERS OF PATIENTS WITH GENETIC DISEASES CARRIERS OF SPECIFIC MUTANT ALLELES NORMAL SUBJECTS SEEKING GENETIC ADVICE 1. CLINICAL COUNSELING 2. ANTENATAL COUNSELING 3. HETEROZYGOTE COUNSELING 4. PREMARITAL COUNSELING 5. PRECONCEPTION COUNSELING
The National Society of Genetic Counselors officially defines genetic counseling as the process of helping people understand adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates : 1. Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence. 2. Education about inheritance, testing, management, prevention, resources and research. 3. Counseling to promote informed choices and adaptation to the risk or condition. Different practical approaches to this target do exist, and many regulations regarding the qualifications and structure of the genetic counseling team and the spectrum of their duties have been designed by different organizations, for instance inclusion of psychotherapists, public health workers
and social workers within the genetic counseling team, but strictly speaking genetic counseling is a pure medical issue and genetic counseling advices are the ultimate results of the efforts of a team work conducted by a group of medical genetics professionals specialized in clinical, diagnostic, therapeutic and prophylactic aspects of medical genetics. Psychological support and social sympathy provided by the genetic counselors team are, of course, of great concern to families of patients with genetic diseases, but they are not medical issues. They can not be, and better not to be, considered as an integral part of the counseling process. Similarly, issues concerning educating the patients, their family members, concerned subjects and the public about the basics of genetic medicine are of public health importance, but they are not medical issues that can be linked with, or related to assumed aims of genetic counseling.
1. Family history of genetic diseases 2. Obligate heterozygosity for single mutant alleles 3. Possible heterozygosity for single mutant alleles 4. Increased age (>35 years) of pregnant women 5. Abnormal serum screening results of pregnant women 6. Abnormal fetal ultrasound findings 7. History of recurrent spontaneous abortions 8. High incidence of specific genetic diseases in population 9. High frequency of certain disease genes in population
The design of the genetic counseling cession and the steps required to approach its aims differ according to the type and indication of the counseling process. For instance, accurate diagnosis of the disease in question is a prerequisite for any family member seeking counseling advice because of history of a specific genetic disease in the family, whereas possible heterozygotes, eg sibs of patients with autosomal recessive diseases, have to be tested first to accurately determine their status. Counseling advice to pregnant women with abnormal screening test results would rather aim at detecting possible fetal abnormalities through fetal ultrasound, biochemical testing of fetal blood or amniocentesis and cytogenetic studies of fetal chromosomes, and the like.
Medical aspects of clinical genetic counseling include :
Fifth, the mother might be taking drugs known to have mutagenic / teratogenic effects on the fetus, eg antiepileptic drugs. Issues involved in antenatal counseling include possibility of accurate diagnosis of detected fetal diseases / abnormalities via cytogenetic, biochemical, molecular or other diagnostic techniques, availability of effective treatment of specific fetal diseases, eg congenital adrenal hyperplasia, availability of prophylactic measures for expected fetal abnormalities, eg fetuses of pregnant mothers affected with phenylketonuria or pregnant mothers known to be carriers of PKU alleles, and the best management procedures recommended regarding perinatal and postnatal aspects of fetal condition.
1. Family history of a genetic disease. 2. Fetal abnormality detected during routine prenatal follow up. 3. Pregnant mothers over 35 years of age. detected 4. Maternal disease with possible teratogenic effects before or during routine prenatal follow up. 5. Maternal medications with proved or possible mutagenic / teratogenic effects.
RELEVANT ISSUES OF ANTENATAL COUNSELING 1. Possibility of accurate diagnosis of detected fetal diseases / abnormalities. 2. Availability of effective treatment of specific fetal diseases. 3. Availability of prophylactic measures for expected fetal abnormalities. 4. Recommended perinatal and postnatal management procedures of fetal condition.
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