Genetic Counseling of Hemoglobinopathies

jon lawrence apilan
24 Jul 202414:43

Summary

TLDRAngela Pasqua's presentation highlights the significance of genetic counseling, discussing its role in helping individuals understand and adapt to genetic conditions. It covers the process of genetic counseling, its impact on families, and the importance of communication, non-directiveness, and addressing personal beliefs and feelings.

Takeaways

  • 🧬 Genetic counseling is a critical process that helps individuals understand and adapt to the medical, psychological, and familial implications of genetic contributions.
  • πŸ‘¨β€πŸ‘©β€πŸ‘§β€πŸ‘¦ It integrates family and medical history interpretation, education about inheritance, and counseling to promote informed decision-making and adaptation to genetic risks or conditions.
  • πŸ€” Genetic counseling focuses on helping individuals understand, accept, and adapt to a genetic diagnosis and its impact on themselves and their family members.
  • 🌐 The World Health Organization estimates that at least 5% of adults have genetic disorders, with Thalassemia affecting about 2.9% of the population.
  • 🧐 Patients' beliefs about the cause of genetic diseases, such as Thalassemia, can significantly influence their understanding and treatment adherence.
  • πŸ₯ Early screening and understanding the severity of a genetic disease can empower patients to take proactive actions for their health.
  • πŸ‘¨β€πŸ‘©β€πŸ‘§β€ When a disorder appears to run in a family, it may be due to inherited genetic mutations or a combination of genetic and environmental factors.
  • πŸ’” The birth of a child with a genetic defect can lead to feelings of guilt and shame in parents, which is a common psychological response addressed in genetic counseling.
  • πŸ“ˆ Genetic counseling has been shown to have a positive impact on families, reducing anxiety and improving communication about genetic conditions.
  • 🌟 The benefits of genetic counseling include providing information, psychosocial support, anticipatory guidance, facilitating family communication, and aiding in decision-making.
  • πŸ—£οΈ Communication and the use of language in genetic counseling are vital, as they can significantly affect patients' understanding and emotional responses to genetic information.

Q & A

  • What is the primary purpose of genetic counseling?

    -Genetic counseling is a process that helps people understand and adapt to the medical, psychological, and familial implications of genetic contributions. It integrates the interpretation of family and medical history, education about inheritance and testing, and counseling to promote informed decision-making and adaptation to the risk or condition.

  • What does the World Health Organization estimate regarding the prevalence of genetic disorders among adults?

    -The World Health Organization estimates that at least 5% of adults have genetic disorders, with about 2.9% having serious genetic conditions.

  • What is the significance of genetic counseling in understanding a genetic diagnosis and its impact on an individual and their family?

    -Genetic counseling focuses on understanding, accepting, and adapting to a genetic diagnosis and its impact. It helps clients understand the diagnosis, prognosis, and recurrence risks, and it explores the role of personal beliefs and adaptation, promoting a sense of personal control and mastery.

  • Why is early screening important for individuals with genetic disorders?

    -Early screening is important because it can help individuals understand the severity of the disease, enabling them to take proactive actions and make informed decisions about their health and family planning.

  • How do patients perceive the cause of genetic diseases according to the qualitative study mentioned in the script?

    -According to the qualitative study with Malaysian patients with thalassemia, patients understood the disease as inherited from parents with thalassemia genes. They also recognized blood transfusion as a crucial treatment, especially for those with major and intermediate thalassemia.

  • What are some of the psychological responses observed in parents during genetic counseling?

    -Parents often experience feelings of guilt and shame when a child is born with a genetic or congenital defect. These psychological responses are frequently observed during genetic counseling as parents review the details of the diagnosis and struggle to find meaning in the occurrence.

  • What is the impact of genetic counseling on families with newborns identified to have an abnormal hemoglobin trait?

    -Genetic counseling after the detection of an abnormal newborn screening is a positive experience, providing answers and addressing concerns to client satisfaction. It leads to openness in discussing the condition within families and is beneficial in reducing anxiety and improving communication.

  • What are the benefits of genetic counseling as identified in the study by Bernhard and colleagues?

    -The benefits include the provision of information and acquisition of knowledge, psychosocial support, anticipatory guidance (medical and psychosocial), facilitating family communication, and aid in decision-making.

  • How does genetic counseling address the language and communication challenges in conveying complex genetic information?

    -Genetic counseling recognizes the importance of language and communication. It presents complex genetic information in a meaningful and non-judgmental way that is relevant to the individual, ensuring that the information is understood and absorbed effectively.

  • What is the concept of 'non-directiveness' in genetic counseling, and why is it important?

    -Non-directiveness is a term coined by Carl Rogers to describe his psychotherapeutic approach of not advising, interpreting, or guiding his clients. In genetic counseling, it shows respect for the autonomy of clients, helping them arrive at the best decisions from their personal perspectives without guiding them towards any particular decision.

  • What is the significance of the 'teachable moment' in genetic counseling?

    -The 'teachable moment' is the point at which an individual, couple, or family is most able to comprehend and absorb the information being given. It is often after the initial shock and denial have subsided, and the person has formulated questions related to the significance of genetic information.

Outlines

00:00

🧬 Genetic Counseling and Its Psychological Impacts

Angela Pasqua discusses the importance of genetic counseling, which is a process to help individuals understand and adapt to the medical, psychological, and familial implications of genetic contributions. The summary highlights how genetic counseling integrates family and medical history interpretation, education about inheritance, and psychological support. It also touches upon the ethical considerations and the role of personal beliefs in adaptation. The paragraph emphasizes understanding and accepting a genetic diagnosis and its impact on the individual and family, including the role of genetic counseling in addressing concerns about disease causation and inheritance, especially in the context of autosomal recessive conditions like thalassemia and sickle cell trait.

05:02

🀰 Reproductive Behaviors and Genetic Counseling Outcomes

This section delves into the reproductive behaviors of families with a history of genetic disorders, focusing on the motivations behind conception and the influence of genetic counseling on these decisions. The summary outlines a study from Iran that investigated the reasons mothers had for conceiving, including the desire for a healthy child. It also discusses the increase in genetic counseling visits after the birth of an affected child. The benefits of genetic counseling are highlighted, such as providing information, psychosocial support, anticipatory guidance, facilitating family communication, and aiding in decision-making. The summary underscores the positive experiences reported by families post-counseling, including relief from anxiety and improved understanding of genetic conditions.

10:03

πŸ—£οΈ The Role of Communication in Genetic Counseling

The final paragraph emphasizes the critical role of communication in genetic counseling, including the importance of language and the concept of non-directiveness. The summary explains that genetic counselors aim to provide information in a way that is understandable and relevant to the individual, taking advantage of 'teachable moments' when clients are most receptive to information. It also discusses the principle of non-directiveness in genetic counseling, which respects the autonomy of clients and supports them in making decisions based on personal perspectives without guiding them towards any particular choice. The paragraph concludes with a reiteration of the importance of genetic counseling, tailored to each individual's needs and circumstances.

Mindmap

Keywords

πŸ’‘Genetic counseling

Genetic counseling is a process that helps individuals understand and adapt to the medical, psychological, and familial implications of genetic contributions to certain conditions. In the video, it is described as integrating the interpretation of family and medical histories, education about inheritance and testing, and counseling to promote informed decisions and adaptation to the risk or condition. It is a key theme as it addresses how individuals and families can cope with genetic diagnoses and their impacts.

πŸ’‘Genetic disorders

Genetic disorders refer to health conditions caused by changes or mutations in genes. The script mentions disorders like thalassemia and sickle cell trait, which are inherited conditions. These disorders are significant in the context of the video as they highlight the importance of genetic counseling in understanding and managing these conditions.

πŸ’‘Mutations

Mutations are changes in the DNA sequence that can lead to genetic disorders. The script discusses how mutations in genes can cause conditions like thalassemia, emphasizing the role of genetic counseling in educating individuals about these genetic changes and their implications.

πŸ’‘Inheritance

Inheritance in the context of genetics refers to the passing of genetic traits from parents to offspring. The script mentions autosomal recessive conditions and how they are inherited, highlighting the importance of understanding inheritance patterns in genetic counseling.

πŸ’‘Risk perception

Risk perception is how individuals perceive the likelihood of an event occurring, such as having a child with a genetic disorder. The script discusses how patients may overestimate or underestimate reproductive risks, which can influence their decisions about marriage and family planning.

πŸ’‘Genetic testing

Genetic testing involves analyzing DNA to identify changes that may be associated with genetic disorders. The script mentions genetic counseling that includes education about genetic testing, which is crucial for individuals to make informed decisions about their health and family planning.

πŸ’‘Psychosocial support

Psychosocial support in genetic counseling refers to the emotional and social assistance provided to individuals and families dealing with genetic conditions. The script describes how genetic counselors provide support by listening, validating concerns, and empowering clients, which is essential in helping them cope with their situation.

πŸ’‘Non-directive

Non-directive in genetic counseling means that counselors do not guide clients towards specific decisions but rather help them explore options from their personal perspectives. The script emphasizes the importance of respecting clients' autonomy and supporting them in making their own decisions.

πŸ’‘Family communication

Family communication in the context of genetic counseling is about facilitating discussions among family members about genetic conditions and their implications. The script notes that genetic counseling can improve communication within families, which is crucial for shared understanding and decision-making.

πŸ’‘Teachable moment

A teachable moment in genetic counseling is a point at which an individual, couple, or family is most receptive to understanding and absorbing genetic information. The script suggests that this moment often comes after initial shock and denial have subsided, making it an opportune time for genetic counselors to provide information.

πŸ’‘Cultural beliefs

Cultural beliefs refer to the societal and traditional views that individuals hold, which can influence their understanding and response to genetic conditions. The script mentions how beliefs regarding the cause of diseases like thalassemia can affect how patients perceive their condition and the importance of genetic counseling in addressing these beliefs.

Highlights

Angela Pasqua emphasizes the importance of genetic counseling and its impact on individuals and families.

Genetic counseling helps people understand and adapt to the medical, psychological, and familial implications of genetic contributions.

The process of genetic counseling includes interpretation of family and medical studies, education about inheritance, and counseling to promote informed decisions.

Genetic counseling focuses on understanding, accepting, and adapting to a genetic diagnosis and its impact on individuals and families.

A qualitative study among Malaysian patients with thalassemia revealed beliefs about the cause of the disease and the importance of blood transfusions.

Early screening for genetic disorders can benefit patients by allowing them to take proactive actions based on the severity of the disease.

Some disorders that appear to run in families are not solely caused by genetic mutations but can also be influenced by environmental factors.

A study from Malaysia indicates that knowledge about being carriers could influence decisions about marriage and having children.

Parents often blame themselves or medical professionals for the lack of information regarding genetic disorders.

Guilt and shame are common psychological responses in parents of children with genetic or congenital defects.

Risk perception varies among individuals, with some overestimating reproductive risks associated with autosomal recessive conditions.

A study in Iran investigated reproductive behaviors in families with affected children, finding motivations for conception and the role of genetic counseling.

Genetic counseling after newborn screening is seen as a positive experience, addressing questions and alleviating anxiety for families.

The study by Bernhard and colleagues outlines the benefits of genetic counseling, including the provision of information and psychosocial support.

Genetic counselors play a crucial role in facilitating family communication and aiding in decision-making processes.

The use of language in genetic counseling is pivotal, as it can significantly impact patients' understanding and emotional responses.

Non-directiveness in genetic counseling respects the autonomy of individuals, helping them make decisions based on personal perspectives.

Genetic counseling is essential for individuals at risk, who must learn all the facts, consider the issues, and make informed decisions.

Transcripts

play00:00

I am Angela Pasqua and I will be cursing

play00:04

the importance of genetic concept you need

play00:11

the contents of my president

play00:14

we are as fathers over the

play00:17

on issues and the impact in the the net incomes

play00:35

the

play00:40

umbrella

play00:44

both are caused by mutations

play00:46

and are the chance in the alpha or better

play00:50

when GP effects cause him of even synthesis

play00:53

the orders this gets rise the cavity yeah

play00:57

long even structure in these cases are not

play01:00

when they cost changes in hivon living structure

play01:03

this gives you guys the abnormal

play01:07

The Road

play01:07

Health Organization estimates that group of the

play01:10

at least 5% of adults are genetic areas

play01:13

for a hip hop in condition

play01:16

about 2.9% for Palestines

play01:21

has because he discussed

play01:23

genetic counseling

play01:24

is the process of helping people understand and adapt

play01:28

the medical psychological

play01:30

and familiar implication genetic contributions

play01:34

this process integrates

play01:36

interpretation of family and medical studies

play01:40

education about inheritance testing

play01:43

management revenge

play01:44

gun resources and research

play01:47

and counseling to promote informed places

play01:49

adaptation to the risk or condition

play01:54

genetic counseling focuses and understanding

play01:57

accepting and adapting to a genetic diagnosis or is

play02:01

and their impact on the individual

play02:03

at a family member is already affected with condition

play02:08

and the clients are seeking to understand

play02:10

the diagnosis prognosis and the recurgence

play02:14

so in a genetic answering session

play02:17

we discuss the client understanding

play02:19

of course as it relates for scientific explanation

play02:22

and the client's reputation

play02:25

explore the role of personal belief

play02:27

and the role in adaptation

play02:30

and to promote feelings with personal control

play02:32

and mastery home vision ethical

play02:37

I will now be discussing some issues

play02:39

and concerns of individual planets affected with him

play02:44

but the first

play02:45

issue is beliefs regarding the cause of the disease

play02:49

so this is from a qualative study

play02:51

Idan Amore

play02:53

Malaysian patients with alasemia

play02:56

it was observed that patients understood

play02:59

alasemia as it is inhabited from parents with alasemia

play03:03

genes was also found

play03:05

that blood transfusion is the most important treatment

play03:08

to those with alasemia

play03:11

especially that palestinia

play03:12

major in and intermediate vaccine

play03:17

and most of the participants admitted

play03:19

having inherited palestinia

play03:21

from their parents because of a genetic factor

play03:25

patients perceive that

play03:26

early screening can benefit them

play03:29

and by knowing the severity of the disease

play03:31

they can take approach actions

play03:36

what does it mean

play03:37

if a disorder seems to run in my family

play03:41

particular particular disorder

play03:43

might be described as running in the family

play03:46

if more than one person in the family has

play03:50

some disorders that affect multiple family members

play03:53

are caused by patients

play03:55

which can be inherited as known for parent

play03:58

the child

play03:59

and other conditions that appear to run in families

play04:03

are not caused by mutations in single

play04:06

environmental factors

play04:07

such as dietary habits or a combination

play04:10

genetic

play04:11

environmental factors are responsible for these burgers

play04:16

the next issue for the patient and family is built

play04:19

and so these are studies um from Malaysia and

play04:25

some parents indicated during the discussion

play04:29

that if they had known they were carriers

play04:32

they would have

play04:33

changed their decision about their presence house

play04:37

however

play04:38

some said they would have proceeded with a marriage

play04:41

but refrain from having children

play04:44

and other lessons affected without a senior engage

play04:49

either in self or other directed

play04:52

their data showed that all

play04:55

educated respondents blame others

play04:58

either their parents or the medical professional

play05:01

majority blame their parents

play05:04

lack of medical information

play05:05

awareness and

play05:07

if you reported medical apathy and insensitivity

play05:10

as the main reasons

play05:15

the birth of a child with a genetic or congenital

play05:17

defect is frequently associated with thoughts

play05:20

and feelings of guilt and shame

play05:22

in the parents

play05:23

these psychological responses are observed

play05:26

frequently in genetic counseling

play05:29

as parents review this vertical details

play05:31

and struggle to find these causes

play05:34

and meaning in the occurrence

play05:40

the next issue is risk perception

play05:43

when autosomal recessive condition

play05:45

there is a 25% switch

play05:49

does the global view that 25% as the big or small risk

play05:53

over estimates reproductive risk

play05:56

may lead to long term decision or go marriage

play06:01

and the next issue is to be sung

play06:03

or returns for contemption

play06:05

so this was done in Iran this is a descriptive

play06:10

scripting study that was designed to investigate

play06:13

the reproductive behaviors

play06:15

in families

play06:15

the palace each mothers participated in the study

play06:20

they have at least one child affected with that

play06:26

the findings of their research indicated that

play06:28

the reason for conception

play06:29

among these mothers was to have a healthy child

play06:33

to have a child

play06:37

and some have an inadequate number of children

play06:40

um a few

play06:41

mothers had a genetic consultation before marriage

play06:45

and it was shown in the study

play06:47

that after the birth of the first afflicted child

play06:50

there was an increase in the rate

play06:52

visits for consultation

play06:57

we will now go to the impact of

play06:59

genetic counseling to affected families

play07:02

according to this study

play07:03

on the impact of Newborn screening

play07:05

and genetic counseling on the lives of families

play07:08

in which an abnormal hemoglobin

play07:10

trait had been identified

play07:12

genetic counseling

play07:14

after detection upon abnormal Newborn speaking

play07:17

is a positive experience

play07:19

questions were answered

play07:21

and addressed to the client satisfaction

play07:25

although previously

play07:26

there had been limited discussion about sickle cell

play07:28

trait within families

play07:30

after genetic counseling

play07:31

there was an openness discussed this partners

play07:37

the counseling was beneficial to their families

play07:40

is evident from the fact that

play07:41

despite concerns

play07:43

that receiving abnormal trait information

play07:46

within itself cause anxiety

play07:49

the participants

play07:50

overwhelmingly reported a relief of anxiety

play07:53

after their constipation

play07:55

some parents indicated that they felt guilty or upset

play07:59

that their child had an abnormal demo of trade

play08:03

the parents who describe feeling guilty or upset

play08:06

on learning of trade in their baby

play08:09

may have felt these emotions from the information

play08:12

rather than the genetic counsel

play08:15

some believe that their partner blamed them

play08:17

for their child's adults

play08:19

as further proof of their positive experience

play08:22

the majority of servant individuals indicated

play08:26

that they would recommend genetic counseling

play08:28

and death fathers

play08:36

these are the outcomes

play08:37

and benefits of genetic counseling

play08:40

based on the results of the study by Bernhard

play08:42

and colleagues so

play08:44

the first one is provision of information

play08:47

and acquisition of college

play08:50

to that the genetic counselors interviewed in the study

play08:53

agreed that improving client knowledge

play08:56

primary goal of genetic counseling

play08:59

they recognize that many clients want a grade

play09:02

of information

play09:04

most clients made a point of commenting on how the

play09:07

police they were

play09:09

not only with the content

play09:11

but with the manner in which the information was given

play09:14

some clients said that

play09:17

the genetic counseling visit was valuable

play09:19

because the genetic counselor helped them

play09:21

evaluate the information they received

play09:24

from other sources such as books or the internet

play09:28

the clients interviewed also

play09:30

recognized

play09:30

that information about genetics is complicated

play09:34

and appreciated the efforts of genetic counselors

play09:37

explain things in ways they could understand

play09:42

and the next benefit is psychosocial support

play09:45

that the genetic counselor spoke of

play09:49

providing psychosocial support

play09:50

largely in terms of listening

play09:53

invalidating concerns

play09:55

empowering the client

play09:57

and in providing supportive counseling

play10:00

with regard to decision making

play10:03

the clients over often spoke of psychosocial support

play10:07

in terms of the

play10:07

encouragement they received during their

play10:10

genetic counseling

play10:14

the next benefit is antisipatory guidance

play10:18

so

play10:19

a distinction was made between antisipatory guidance

play10:22

with regards to medical aspects of a disorder

play10:27

giving them advice about what the

play10:28

not

play10:29

giving them guidance about what the natural history

play10:32

the disease is

play10:34

and what steps might be recommended at certain times

play10:37

on the line and psychosocial and despiratory guidance

play10:42

just preparing for possible feelings

play10:44

that might come about in the future

play10:47

in the next is um facilitating family communication

play10:52

so this improvement resulted from the

play10:54

emphasis on the family

play10:56

in genetic counseling session

play10:58

or from the inclusion of partners or other relatives

play11:01

in the session

play11:03

about one

play11:04

half of the clients spoke about how genetic counseling

play11:08

in one way or another LED to improve communication

play11:12

either with their partner or within their family

play11:16

and the next is aid in decision making

play11:19

the genetic counselors agree that helping clients

play11:22

reach decisions

play11:23

is an important goal of

play11:26

genetic counseling

play11:27

and that a good and autonomous decision

play11:30

could be an outcome

play11:34

the use of language is important

play11:36

because

play11:37

genetic counseling is dependent on communication

play11:40

in the meanings and implications of terminology

play11:43

commonly used in health may be altered

play11:46

in discussing genetic issues

play11:49

the language may have

play11:51

a very different impact on the patients and clients

play11:54

or face to the diagnosis

play11:56

in themselves or in their feet

play11:58

a child the genetic information is complex

play12:02

and needs to be presented in a meaningful and non

play12:05

judgmental way that is relevant to the individual

play12:08

needs to be planned

play12:12

the teachable moment

play12:14

is the point at which an individual

play12:16

couple or family

play12:18

most able to comprehend

play12:20

and absorb the information being given

play12:23

most each of more

play12:24

each of our moments might come later

play12:26

after the initial information has been absorbed

play12:29

and the person has

play12:30

formulated questions related to the significance

play12:33

of genetic information so

play12:35

this is usually after some of the early shock

play12:38

and denial have subsided

play12:42

the non directiveness is the term coined by Carl Rogers

play12:47

describe his

play12:48

psychotherapeutic approach of not advising

play12:51

interpreting or guiding his clients

play12:54

so this should not be taken

play12:56

it should not be mistaken for positivity

play12:59

the commitment to non directive messenger

play13:01

at Genetic Counseling arises from respect for

play13:04

or the parents autonomy institution thinking

play13:07

this is generally taken to mean that genetic conceptors

play13:11

and clinical geneticists

play13:13

are trying to help their clients arrive

play13:16

the best decisions from personal perspectives

play13:20

and they're not guiding them towards any particular

play13:23

decision

play13:26

something

play13:26

sounds like genetic counseling should be non directive

play13:29

are

play13:31

people at risk often

play13:32

have first hand experience of

play13:34

the condition in question

play13:35

unlike most of their advisors

play13:38

they have to learn all the facts

play13:40

think the issues

play13:42

and reach a decision that they must live with

play13:44

for the rest of their lives

play13:46

the right choice for a given individual

play13:49

among the options actually available

play13:52

is likely to be determined by many factors

play13:55

including their social and religious attitude

play13:59

personal experiences economic and educational level

play14:03

and family and reproductivity

play14:08

the 4 that they call points

play14:09

is genetic counseling really important

play14:12

short answer is yes genetic counseling is a process

play14:17

genetic counseling differs for each individual

play14:21

communication and use of language are important

play14:24

take advantage the teachable movement

play14:27

non directiveness is encouraged

play14:30

and personal beliefs and feelings of the parent

play14:32

or patient

play14:33

must be acknowledged to better understand them

play14:37

that is my presentation for today

play14:40

and thank you for your attention

play00:00

I am Angela Pasqua and I will be cursing

play00:04

the importance of genetic concept you need

play00:11

the contents of my president

play00:14

we are as fathers over the

play00:17

on issues and the impact in the the net incomes

play00:35

the

play00:40

umbrella

play00:44

both are caused by mutations

play00:46

and are the chance in the alpha or better

play00:50

when GP effects cause him of even synthesis

play00:53

the orders this gets rise the cavity yeah

play00:57

long even structure in these cases are not

play01:00

when they cost changes in hivon living structure

play01:03

this gives you guys the abnormal

play01:07

The Road

play01:07

Health Organization estimates that group of the

play01:10

at least 5% of adults are genetic areas

play01:13

for a hip hop in condition

play01:16

about 2.9% for Palestines

play01:21

has because he discussed

play01:23

genetic counseling

play01:24

is the process of helping people understand and adapt

play01:28

the medical psychological

play01:30

and familiar implication genetic contributions

play01:34

this process integrates

play01:36

interpretation of family and medical studies

play01:40

education about inheritance testing

play01:43

management revenge

play01:44

gun resources and research

play01:47

and counseling to promote informed places

play01:49

adaptation to the risk or condition

play01:54

genetic counseling focuses and understanding

play01:57

accepting and adapting to a genetic diagnosis or is

play02:01

and their impact on the individual

play02:03

at a family member is already affected with condition

play02:08

and the clients are seeking to understand

play02:10

the diagnosis prognosis and the recurgence

play02:14

so in a genetic answering session

play02:17

we discuss the client understanding

play02:19

of course as it relates for scientific explanation

play02:22

and the client's reputation

play02:25

explore the role of personal belief

play02:27

and the role in adaptation

play02:30

and to promote feelings with personal control

play02:32

and mastery home vision ethical

play02:37

I will now be discussing some issues

play02:39

and concerns of individual planets affected with him

play02:44

but the first

play02:45

issue is beliefs regarding the cause of the disease

play02:49

so this is from a qualative study

play02:51

Idan Amore

play02:53

Malaysian patients with alasemia

play02:56

it was observed that patients understood

play02:59

alasemia as it is inhabited from parents with alasemia

play03:03

genes was also found

play03:05

that blood transfusion is the most important treatment

play03:08

to those with alasemia

play03:11

especially that palestinia

play03:12

major in and intermediate vaccine

play03:17

and most of the participants admitted

play03:19

having inherited palestinia

play03:21

from their parents because of a genetic factor

play03:25

patients perceive that

play03:26

early screening can benefit them

play03:29

and by knowing the severity of the disease

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they can take approach actions

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what does it mean

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if a disorder seems to run in my family

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particular particular disorder

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might be described as running in the family

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if more than one person in the family has

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some disorders that affect multiple family members

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are caused by patients

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which can be inherited as known for parent

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the child

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and other conditions that appear to run in families

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are not caused by mutations in single

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environmental factors

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such as dietary habits or a combination

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genetic

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environmental factors are responsible for these burgers

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the next issue for the patient and family is built

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and so these are studies um from Malaysia and

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some parents indicated during the discussion

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that if they had known they were carriers

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they would have

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changed their decision about their presence house

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however

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some said they would have proceeded with a marriage

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but refrain from having children

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and other lessons affected without a senior engage

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either in self or other directed

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their data showed that all

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educated respondents blame others

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either their parents or the medical professional

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majority blame their parents

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lack of medical information

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awareness and

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if you reported medical apathy and insensitivity

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as the main reasons

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the birth of a child with a genetic or congenital

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defect is frequently associated with thoughts

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and feelings of guilt and shame

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in the parents

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these psychological responses are observed

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frequently in genetic counseling

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as parents review this vertical details

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and struggle to find these causes

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and meaning in the occurrence

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the next issue is risk perception

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when autosomal recessive condition

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there is a 25% switch

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does the global view that 25% as the big or small risk

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over estimates reproductive risk

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may lead to long term decision or go marriage

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and the next issue is to be sung

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or returns for contemption

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so this was done in Iran this is a descriptive

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scripting study that was designed to investigate

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the reproductive behaviors

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in families

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the palace each mothers participated in the study

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they have at least one child affected with that

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the findings of their research indicated that

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the reason for conception

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among these mothers was to have a healthy child

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to have a child

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and some have an inadequate number of children

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Um iilan

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Ang mga ina ay nagkaroon ng genetic consultation bago ang kasal

play06:45

at ito ay ipinakita sa pag-aaral

play06:47

na pagkatapos ng kapanganakan ng unang naghihirap na bata

play06:50

nagkaroon ng pagtaas sa rate

play06:52

mga pagbisita para sa konsultasyon

play06:57

pupunta tayo ngayon sa epekto ng

play06:59

genetic counseling sa mga apektadong pamilya

play07:02

ayon sa pag-aaral na ito

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sa epekto ng Newborn screening

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at genetic counseling sa buhay ng mga pamilya

play07:08

kung saan ang isang abnormal na hemoglobin

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Natukoy ang katangian

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genetic na pagpapayo

play07:14

After detection sa abnormal na pagsasalita ng Newborn

play07:17

ay isang positibong karanasan

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nasagot ang mga tanong

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at tinutugunan sa kasiyahan ng kliyente

play07:25

bagaman dati

play07:26

nagkaroon ng limitadong talakayan tungkol sa sickle cell

play07:28

katangian sa loob ng mga pamilya

play07:30

pagkatapos ng genetic counseling

play07:31

nagkaroon ng pagiging bukas na tinalakay ang mga kasosyong ito

play07:37

Ang pagpapayo ay kapaki-pakinabang sa kanilang mga pamilya

play07:40

ay maliwanag mula sa katotohanan na

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sa kabila ng mga alalahanin

play07:43

na tumatanggap ng abnormal na impormasyon ng katangian

play07:46

sa loob mismo ay nagdudulot ng pagkabalisa

play07:49

ang mga kalahok

play07:50

Napakaraming nag-ulat ng kaluwagan ng pagkabalisa

play07:53

pagkatapos ng kanilang paninigas ng dumi

play07:55

ilang mga magulang ang nagpahiwatig na sila ay nagkasala o nabalisa

play07:59

na ang kanilang anak ay may abnormal na demo ng kalakalan

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ang mga magulang na naglalarawan ng pakiramdam na nagkasala o nabalisa

play08:06

sa pag-aaral ng kalakalan sa kanilang sanggol

play08:09

Maaaring naramdaman ang mga emosyong ito mula sa impormasyon

play08:12

sa halip na ang genetic counsel

play08:15

Naniniwala ang ilan na sinisi sila ng kanilang partner

play08:17

para sa mga matatanda ng kanilang anak

play08:19

bilang karagdagang patunay ng kanilang positibong karanasan

play08:22

ipinahiwatig ng karamihan ng mga indibidwal na tagapaglingkod

play08:26

na magrerekomenda sila ng genetic counseling

play08:28

at mga ama ng kamatayan

play08:36

ito ang mga kinalabasan

play08:37

at mga benepisyo ng genetic counseling

play08:40

batay sa mga resulta ng pag-aaral ni Bernhard

play08:42

at mga kasamahan kaya

play08:44

ang una ay ang pagbibigay ng impormasyon

play08:47

at pagkuha ng kolehiyo

play08:50

na ang mga genetic counselor na nakapanayam sa pag-aaral

play08:53

sumang-ayon na ang pagpapabuti ng kaalaman ng kliyente

play08:56

pangunahing layunin ng genetic counseling

play08:59

kinikilala nila na maraming kliyente ang gusto ng grado

play09:02

ng impormasyon

play09:04

karamihan sa mga kliyente ay gumawa ng isang punto ng pagkomento sa kung paano ang

play09:07

Pulis sila noon

play09:09

hindi lamang sa nilalaman

play09:11

ngunit sa paraan kung saan ibinigay ang impormasyon

play09:14

sabi ng ilang kliyente

play09:17

ang pagbisita sa genetic counseling ay mahalaga

play09:19

dahil tinulungan sila ng genetic counselor

play09:21

Suriin ang impormasyong kanilang natanggap

play09:24

mula sa iba pang mga mapagkukunan tulad ng mga libro o internet

play09:28

nakapanayam din ang mga kliyente

play09:30

kinikilala

play09:30

na ang impormasyon tungkol sa genetika ay kumplikado

play09:34

at pinahahalagahan ang mga pagsisikap ng mga genetic counselor

play09:37

Ipaliwanag ang mga bagay sa mga paraan na mauunawaan nila

play09:42

at ang susunod na benepisyo ay psychosocial support

play09:45

na binanggit ng genetic counselor

play09:49

pagbibigay ng psychosocial na suporta

play09:50

higit sa lahat sa mga tuntunin ng pakikinig

play09:53

nagpapawalang-bisa sa mga alalahanin

play09:55

pagbibigay kapangyarihan sa kliyente

play09:57

at sa pagbibigay ng suportang pagpapayo

play10:00

patungkol sa paggawa ng desisyon

play10:03

madalas magsalita ang mga kliyente tungkol sa suportang psychosocial

play10:07

sa mga tuntunin ng

play10:07

paghihikayat na kanilang natanggap sa panahon ng kanilang

play10:10

genetic na pagpapayo

play10:14

ang susunod na benepisyo ay antisipatory guidance

play10:18

kaya

play10:19

isang pagkakaiba ang ginawa sa pagitan ng antisipatory guidance

play10:22

patungkol sa mga medikal na aspeto ng isang karamdaman

play10:27

pagbibigay sa kanila ng payo tungkol sa kung ano ang

play10:28

hindi

play10:29

pagbibigay sa kanila ng gabay tungkol sa kung ano ang natural na kasaysayan

play10:32

ang sakit ay

play10:34

at kung anong mga hakbang ang maaaring irekomenda sa ilang partikular na oras

play10:37

On the line at psychosocial at despiratory na patnubay

play10:42

Naghahanda lang para sa mga posibleng nararamdaman

play10:44

na maaaring mangyari sa hinaharap

play10:47

sa susunod ay um facilitating family communication

play10:52

kaya ang pagpapabuti na ito ay nagresulta mula sa

play10:54

diin sa pamilya

play10:56

sa sesyon ng genetic counseling

play10:58

o mula sa pagsasama ng mga kasosyo o iba pang mga kamag-anak

play11:01

sa session

play11:03

tungkol sa isa

play11:04

kalahati ng mga kliyente ay nagsalita tungkol sa kung paano genetic counseling

play11:08

sa isang paraan o ibang LED upang mapabuti ang komunikasyon

play11:12

alinman sa kanilang kapareha o sa loob ng kanilang pamilya

play11:16

at ang susunod ay tulong sa paggawa ng desisyon

play11:19

Sumasang-ayon ang mga genetic counselor na ang pagtulong sa mga kliyente

play11:22

maabot ang mga desisyon

play11:23

ay isang mahalagang layunin ng

play11:26

genetic na pagpapayo

play11:27

at iyon ay isang mahusay at nagsasarili na desisyon

play11:30

maaaring maging resulta

play11:34

ang paggamit ng wika ay mahalaga

play11:36

kasi

play11:37

Ang genetic counseling ay nakasalalay sa komunikasyon

play11:40

sa mga kahulugan at implikasyon ng terminolohiya

play11:43

Karaniwang ginagamit sa kalusugan ay maaaring mabago

play11:46

sa pagtalakay sa mga isyung genetic

play11:49

maaaring mayroon ang wika

play11:51

ibang-iba ang epekto sa mga pasyente at kliyente

play11:54

o harapin ang diagnosis

play11:56

sa kanilang sarili o sa kanilang mga paa

play11:58

isang bata ang genetic na impormasyon ay kumplikado

play12:02

at kailangang iharap sa isang makabuluhan at hindi

play12:05

mapanghusgang paraan na may kaugnayan sa indibidwal

play12:08

kailangang planuhin

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ang sandali na madaling turuan

play12:14

ay ang punto kung saan ang isang indibidwal

play12:16

mag-asawa o pamilya

play12:18

pinaka kayang intindihin

play12:20

at sumipsip ng impormasyong ibinibigay

play12:23

karamihan sa bawat isa sa higit pa

play12:24

Baka mamaya dumating ang bawat sandali natin

play12:26

pagkatapos ma-absorb ang paunang impormasyon

play12:29

at ang tao ay mayroon

play12:30

mga nabuong tanong na may kaugnayan sa kahalagahan

play12:33

ng genetic information kaya

play12:35

Ito ay karaniwang pagkatapos ng ilang maagang pagkabigla

play12:38

at humupa na ang pagtanggi

play12:42

The non directiveness ay ang terminong likha ni Carl Rogers

play12:47

ilarawan ang kanyang

play12:48

Psychotherapeutic na diskarte ng hindi pagpapayo

play12:51

Pagbibigay-kahulugan o paggabay sa kanyang mga kliyente

play12:54

kaya hindi ito dapat kunin

play12:56

hindi ito dapat ipagkamali sa pagiging positibo

play12:59

ang pangako sa hindi direktiba na mensahero

play13:01

At ang Genetic Counseling ay nagmumula sa paggalang sa

play13:04

o ang mga magulang awtonomiya institusyon pag-iisip

play13:07

ito ay karaniwang kinuha sa ibig sabihin na genetic conceptors

play13:11

at mga klinikal na geneticist

play13:13

Sinusubukang tulungan ang kanilang mga kliyente na makarating

play13:16

ang pinakamahusay na mga desisyon mula sa mga personal na pananaw

play13:20

at hindi nila ginagabayan sila patungo sa anumang partikular

play13:23

desisyon

play13:26

isang bagay

play13:26

parang hindi direktiba ang genetic counseling

play13:29

ay

play13:31

mga taong nasa panganib madalas

play13:32

magkaroon ng unang karanasan sa

play13:34

ang kondisyong pinag-uusapan

play13:35

Hindi tulad ng karamihan sa kanilang mga tagapayo

play13:38

kailangan nilang matutunan ang lahat ng katotohanan

play13:40

isipin ang mga isyu

play13:42

at maabot ang isang desisyon na dapat nilang mabuhay

play13:44

para sa natitirang bahagi ng kanilang buhay

play13:46

ang tamang pagpipilian para sa isang partikular na indibidwal

play13:49

kabilang sa mga opsyon na aktwal na magagamit

play13:52

ay malamang na matukoy ng maraming mga kadahilanan

play13:55

kasama ang kanilang panlipunan at relihiyosong saloobin

play13:59

mga personal na karanasan sa antas ng ekonomiya at edukasyon

play14:03

at pamilya at reproductivity

play14:08

The 4 na tinatawag nilang points

play14:09

Mahalaga ba talaga ang genetic counseling

play14:12

Ang maikling sagot ay oo ang genetic counseling ay isang proseso

play14:17

Ang genetic counseling ay naiiba para sa bawat indibidwal

play14:21

Mahalaga ang komunikasyon at paggamit ng wika

play14:24

Samantalahin ang kilusang madaling turuan

play14:27

Hinihikayat ang hindi direktiba

play14:30

at personal na paniniwala at damdamin ng magulang

play14:32

o pasyente

play14:33

Dapat kilalanin upang mas maunawaan ang mga ito

play14:37

yan ang presentation ko para sa araw na ito

play14:40

at salamat sa iyong atensyon

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Related Tags
Genetic CounselingHealth ImpactFamily DynamicsMedical PsychologyInheritance TestingRisk PerceptionReproductive DecisionsCultural BeliefsPsychosocial SupportGenetic Disorders