anatomyphysiologyblog - STEPS IN GENETIC COUNSELING: BRIEF OUTLINE

Definition:
Genetic counseling is a procedure of communication as well as pedagogy that addresses concerns relating to the evolution and/ or transmission of a hereditary/genetic disorder.

The usage of genetic counseling is to enable a consultand (person who seeks counseling) to understand:
–The medical diagnosis as well as its implications inward price of prognosis as well as possible treatment
–The mode of inheritance of the disorder as well as the hazard of developing and/ or transmitting it
–The choices or options available for dealing amongst the risks

Often provided yesteryear Genetic Counselors
•Specially as well as highly trained professionals
•Counselors as well as geneticists

Common Indications for genetic counseling
1.Previous shaver amongst congenital anomalies, a nascency defect, fissure lip or palate
2.Family history of hereditary status – Cystic fibrosis, frail X syndrome or diabetes
3.Prenatal diagnosis for AMA or other
4.Consanguinity
5.Teratogen exposure
6.Repeated pregnancy loss or infertility
7.Newly diagnosed abnormality or genetic condition
8.Before task genetic testing as well as after receiving results
9.Follow-up for a positive newborn show (PKU, or screening show similar Tay-Sachs)

Steps inward Genetic Counseling

•Establishing the diagnosis

•Calculating as well as presenting the risk
–Quantifying a risk
–Qualifying a risk
–Putting a hazard inward context

•Discussing the options

•Communication as well as support
–Patient back upward groups

Establishing the diagnosis

–Most crucial stride inward whatsoever genetic consultation
–Involves
•History taking
•Examination and
•Investigation

Genetic heterogeneity may complicate subsequent counseling process. For illustration Ehlers-Danlos syndrome, Chareot Marie-Tooth affliction as well as retinitis pigmentosa tin give the sack present autosomal dominant, autosomal recessive as well as X-linked recessive inheritance.

Calculating as well as presenting the risk

–Need to consider delayed historic catamenia of onslaught as well as reduced prenetrance
–involves

•Quantification: expressing a hazard inward number
–1 inward iv or 25%
–1 inward 25 adventure of having affliction but 24 out of 25 that affliction volition non occur

•Qualification: nature of a risk
–Polydactyly fifty-fifty if it has high hazard of 1 inward ii VS NTD amongst relatively depression hazard of 1 inward 25

•Putting a hazard inward context
–1 inward xl of all babies has a congenital malformation or handicapping disorder

Discussing the options

–consultands should hold upward provided amongst all of the information necessary for them to brand their ain informed decisions.
–Should include details of all the options available
–For example,
•if relevant, the availability of prenatal diagnosis should hold upward discussed, together amongst details of the techniques, limitations as well as risks associated amongst the diverse methods employed
•Various reproductive options –donor sperm, donor ova or PGD

Communication as well as support

–Should introduce information clearly inward sympathetic as well as appropriate manner
–Should heed carefully
–be receptive to the fears as well as aspirations, expressed or unexpressed
–The setting should hold upward agreeable, private as well as quiet, amongst ample fourth dimension for tidings as well as questions
–technical price should hold upward avoided or, if used, fully explained
–Questions should hold upward answered openly as well as honestly
–Written summary for follow up
–should contact the consultand at after date
–Should refer to appropriate patient back upward groups

Genetic Counseling should be
–Non-directive as well as nonjudgmental
–as the primary destination of genetic counseling is to render the information as well as thence that an private or a duad tin give the sack accomplish their ain decisions based on total information close the risks as well as options.

Thus the business office of the genetic counselor is to facilitate as well as heighten private autonomy rather than to give advice or recommend a exceptional course of instruction of action.

Additional Note:

Role of Nurses inward genetic counseling (source: http://www.tnaionline.org/dec-10/4.htm)
It is but about the same equally steps inward genetic counseling discussed above. However, for convenience a brief summary is given below:

Take detailed identify unit of measurement history
Construct pedigrees
Assess hereditary as well as nonhereditary risk factors related to genetic diseases, or diseases amongst a genetic component
Provide genetic information to individuals as well as families
Interpret genetic tests as well as laboratory data
Manage as well as assist for patients as well as families at hazard for or affected yesteryear genetic diseases or diseases amongst a genetic component
Provide genetic counselling, genetic consultation, as well as instance administration for persons amongst complex genetic wellness assist needs.

For example, if a adult woman is concerned close her thorax cancer hazard as well as wants to know whether she should undergo genetic testing for its susceptibility, a nurse could render genetic pedagogy close thorax cancer susceptibility genes, accept a detailed identify unit of measurement history as well as build a pedigree, assess the women’s hereditary as well as nonhereditary cancer hazard factors, as well as inform close the risks as well as benefits of genetic testing.

The genetic nurse could equally good render information close the woman’s thorax cancer hazard compared to the full general population as well as approximate the probability she may acquit a mutation inward either the BRCA1 or BRCA2 gene, which is associated amongst a greatly increased hazard for both thorax as well as ovarian cancer. Whether or non the adult woman chose to pursue genetic testing, the genetic nurse could brand recommendations for thorax cancer hazard reduction as well as surveillance equally good equally refer her to appropriate community resources.

REFERENCES:

Following resources are used spell preparing this postal service (readers are strongly recommended to larn through them for to a greater extent than details):

Thomson as well as Thomson Genetics inward Medicine, seventh Edition
Emery's Elements of Medical Genetics, 14th Edition