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    Genetic Counseling

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    Chandra
    This document discusses genetic counseling, which involves communication between a genetic counselor and counselee to address genetic problems. The counselor helps diagnose genetic disorders, collects family histories, constructs pedigrees, presents alternatives, and helps counselees make informed decisions. Key aspects of genetic counseling include determining probabilities of disorders occurring based on inheritance patterns, epidemiological data, and parental ages. The goal is to help manage genetic disorders and reduce new cases in society.

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    Genetic Counseling

    Uploaded by

    Chandra
    88 views12 pages
    This document discusses genetic counseling, which involves communication between a genetic counselor and counselee to address genetic problems. The counselor helps diagnose genetic disorders, collects family histories, constructs pedigrees, presents alternatives, and helps counselees make informed decisions. Key aspects of genetic counseling include determining probabilities of disorders occurring based on inheritance patterns, epidemiological data, and parental ages. The goal is to help manage genetic disorders and reduce new cases in society.

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    Genetic Counseling

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    This document discusses genetic counseling, which involves communication between a genetic counselor and counselee to address genetic problems. The counselor helps diagnose genetic disorders, collects family histories, constructs pedigrees, presents alternatives, and helps counselees make informed decisions. Key aspects of genetic counseling include determining probabilities of disorders occurring based on inheritance patterns, epidemiological data, and parental ages. The goal is to help manage genetic disorders and reduce new cases in society.

    Copyright:

    © All Rights Reserved
    Download as PPT, PDF, TXT or read online from Scribd
    Download as ppt, pdf, or txt
    88 views12 pages

    Genetic Counseling

    Uploaded by

    Chandra
    This document discusses genetic counseling, which involves communication between a genetic counselor and counselee to address genetic problems. The counselor helps diagnose genetic disorders, collects family histories, constructs pedigrees, presents alternatives, and helps counselees make informed decisions. Key aspects of genetic counseling include determining probabilities of disorders occurring based on inheritance patterns, epidemiological data, and parental ages. The goal is to help manage genetic disorders and reduce new cases in society.

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    GENETIC COUNSELING

    Wahyuning Ramelan
    Medical Study Program
    UNTAN
    Faculty of Medicine UI

    Genetic counseling
    A communication process between genetic
    counselor and counselee, with objective to get a
    solution for the genetic problem faced by the
    counselee
    Counselee can be
    1. Patient with genetic disease/disorder (GDD)
    2. A pair of parent who have a child with GDD
    3. Newly wed spouse, or will marry pair, who have a
    relative with GDD, or one of them has already the
    GDD
    4. Will marry pair (pre-marital), without or with history
    of GDD among their relatives

    Counselor is an educated one in medical


    genetics, and trained as genetic counselor

    Genetic counseling
    Genetic counseling is an essentials step in
    the management of a GDD
    The main objective of this step is to
    maximize the effort of GDD management,
    by reducing the probability of adding
    someone with GDD in the society, due to :
    The cause of GDD up to now cannot be
    eliminated
    No 100% good result in the management of
    GDD

    Steps in genetic counseling


    The first and important step in GC is the
    diagnosis of GDD concerning GC
    Diagnosis of GDD, can be
    DNA sequencing, the most accurate and
    reliable
    Cytogenetics examination
    Clinical picture
    + supporting lab exam

    The second step is family data collection, in


    relation with GDD, among family members

    Steps in genetic counseling2


    The 3rd step is constructing the
    pedigree, which include
    at least 3 generations
    as much as possible family members

    I/1
    II/1
    III/1

    I/2

    I/3 I/4
    II/5

    II/9
    ?

    Steps in genetic counseling3


    The 4th step is formulating the
    alternatives will be given to counselee
    At least 2 choices, better >2 alternatives
    are constructed counselees selection
    can be done with elegance
    If necessary, give more information of
    each choices. Also with its
    consequences, whether selected or not

    Steps in genetic counseling4


    The 5th step is giving the counselee enough
    time to think, rethink, and consider,
    reconsider and then to select 1 only choice
    If necessary once more explanation could be
    given
    Let the counselee make their own decision of
    selecting the alternatives given
    If necessary, at special condition/situation,
    counselor may give advice, eg which one of
    the alternative is more appropriate for
    counselee

    Steps in genetic counseling5


    The 6th step is to help the counselee
    on realizing their choice, even if the
    choice is against counselors religion
    belief.
    Such a help eg. :
    By sending the counselee to an
    ObGyn, who can and will do
    termination

    Probability of occurance
    Probability of occurrence is a significant
    role in genetic counseling
    Some probability of occurrence in
    Autosomal recessive : 25%
    Autosomal dominant : 50%
    X-linked recessive : 50% in male, 50% female
    carrier
    Polygenic/multifactor inheritance : 2.5% - < 20%
    Chromosomal aberration : 50% if already there,
    or depend on maternal/paternal age
    Mitochondrial DD : 100% if already + in mother,
    but with variation of severity (mild severe)

    Probability of occurance2
    Some probability of occurrence are
    epidemio-logically, age or both dependant,
    such as
    Albinism, about 1 : 4,000 6,000 in pop.
    Down syndrome, about 1 : 900 1000 in pop.
    But specifically, depend on maternal age :
    < 25 1 : 1000
    25 30
    1 : 1000 - 1250
    > 30 35 1 : 400 - 800
    > 35 40 1 : 100 - 300
    > 40 1 : 70

    Probability of occurence3
    From the pedigree below, what is the probability of the
    occurrence for
    Albinism from marriage II/5 II/6, while III/3 has already
    albinism, both generation I of the 2 families are the 4 th
    generation of same spouse :

    I/1
    II/1
    III/1

    I/2

    I/3 I/4
    II/5
    ?

    II/9

    Probability of occurence4
    From the pedigree below, what is the
    probability of the occurrence for
    Down syndrome from marriage II/5 II/6, while III/3
    has the syndrome; no relation between 2 families
    I/1
    I/2
    I/3 I/4
    II/1
    III/1

    II/5
    ?

    II/9

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