This document provides an overview of genetic counselling. It begins by defining genetics and genetic counselling. Genetic counselling is a process that helps people understand medical, psychological and familial implications of genetic contributions to disease. It aims to provide complete information to families and promote informed decisions. Genetic counsellors are health professionals who identify individuals at risk, interpret family histories, and review options. Prenatal diagnosis and screening methods like amniocentesis and ultrasound are discussed. The document concludes by describing the types and steps of genetic counselling.
Genetic counseling is a process that provides individuals at risk of inherited disorders with information about the disorders, including their likelihood of developing or transmitting the disorders. It aims to promote informed decisions by clarifying options for treatment, management, and family planning. A genetic counselor is usually a healthcare professional with training in medical genetics and counseling techniques. They provide counseling to help clients understand a genetic condition, adapt to the implications, and make informed choices about related health issues.
The document provides an overview of genetic counseling. It defines genetic counseling as a process that helps people understand medical, psychological and familial implications of genetic contributions to disease. This involves interpreting family histories, providing education, facilitating informed decision making, and offering support. The document outlines the aims, indications, information conveyed, and steps involved in genetic counseling sessions. It also describes the roles of genetic counselors and nurses in counseling clients.
Genetic counseling is a communication process that advises individuals and families about genetic disorders and associated risks. It helps them understand medical, psychological and familial implications. The process involves taking a family history, constructing a pedigree, estimating genetic risks, and providing information and management options. Genetic counselors work with prenatal, pediatric, and adult populations, as well as those with cancer risks. They discuss testing options like amniocentesis and address ethical issues around choices like abortion. Nurses play a role in guiding patients, assisting with decisions, coordinating care, and providing support.
genetic counselling and role of nurse in genetic counsellingpoonambiswas4
Genetic counselling has been defined as "an educational process that seeks affected and risk individuals understand the nature of to assist to a genetic disorder, its transmission and options available to them family planning.
Reed proposed the term ‘Genetic Counselling’ in 1947
Prof IC Verma - Former professor of Paediatrics and Genetics at AIIMS, New Delhi. He is considered as the "Father of Genetics" in India.
Nurses must learn to think genetically
New opportunity to prevent, learn and treat disease
5 main activities by nurses in practice
Genetic counseling is a process that provides information and support to individuals and families regarding genetic disorders and inherited diseases. It involves taking a family history, constructing a pedigree, estimating disease risks, communicating information to clients, and discussing management options. The goals are to provide accurate information about genetic conditions, allow for informed reproductive choices, and offer support from healthcare professionals. Genetic counselors work with a variety of populations for prenatal, pediatric, adult, and cancer counseling. They help clients understand genetic information and make personal decisions regarding testing and management. Nurses play a role in recognizing genetic disorders, assisting with the counseling process, and providing psychosocial support to families.
Genetic counselling involves communicating information about genetic disorders to help individuals and families understand medical facts and risks. A genetic counsellor works with clients to comprehend diagnoses, risk levels, and options for managing risk or treating disorders. The summary provides an overview of genetic counselling, including its definition, purpose of informing decisions, and the counsellor's role in helping clients understand inheritance and implications of genetic conditions.
Genetic counseling is a process that provides information about inherited disorders to allow informed choices about reproduction and management. It follows the characteristics of counseling by communicating between counselors and families confronting genetic disorders. The steps of genetic counseling involve taking an accurate history, constructing a pedigree chart, estimating risk, transmitting information, and discussing management options. Genetic counselors work with prenatal, pediatric, adult, and cancer populations to assess risk and discuss testing and management of genetic conditions. Nurses play a role in guiding patients, assisting with decisions, coordinating care, and providing support.
Genetic counseling is a process that provides individuals at risk of inherited disorders with information about the disorders, including their likelihood of developing or transmitting the disorders. It aims to promote informed decisions by clarifying options for treatment, management, and family planning. A genetic counselor is usually a healthcare professional with training in medical genetics and counseling techniques. They provide counseling to help clients understand a genetic condition, adapt to the implications, and make informed choices about related health issues.
The document provides an overview of genetic counseling. It defines genetic counseling as a process that helps people understand medical, psychological and familial implications of genetic contributions to disease. This involves interpreting family histories, providing education, facilitating informed decision making, and offering support. The document outlines the aims, indications, information conveyed, and steps involved in genetic counseling sessions. It also describes the roles of genetic counselors and nurses in counseling clients.
Genetic counseling is a communication process that advises individuals and families about genetic disorders and associated risks. It helps them understand medical, psychological and familial implications. The process involves taking a family history, constructing a pedigree, estimating genetic risks, and providing information and management options. Genetic counselors work with prenatal, pediatric, and adult populations, as well as those with cancer risks. They discuss testing options like amniocentesis and address ethical issues around choices like abortion. Nurses play a role in guiding patients, assisting with decisions, coordinating care, and providing support.
genetic counselling and role of nurse in genetic counsellingpoonambiswas4
Genetic counselling has been defined as "an educational process that seeks affected and risk individuals understand the nature of to assist to a genetic disorder, its transmission and options available to them family planning.
Reed proposed the term ‘Genetic Counselling’ in 1947
Prof IC Verma - Former professor of Paediatrics and Genetics at AIIMS, New Delhi. He is considered as the "Father of Genetics" in India.
Nurses must learn to think genetically
New opportunity to prevent, learn and treat disease
5 main activities by nurses in practice
Genetic counseling is a process that provides information and support to individuals and families regarding genetic disorders and inherited diseases. It involves taking a family history, constructing a pedigree, estimating disease risks, communicating information to clients, and discussing management options. The goals are to provide accurate information about genetic conditions, allow for informed reproductive choices, and offer support from healthcare professionals. Genetic counselors work with a variety of populations for prenatal, pediatric, adult, and cancer counseling. They help clients understand genetic information and make personal decisions regarding testing and management. Nurses play a role in recognizing genetic disorders, assisting with the counseling process, and providing psychosocial support to families.
Genetic counselling involves communicating information about genetic disorders to help individuals and families understand medical facts and risks. A genetic counsellor works with clients to comprehend diagnoses, risk levels, and options for managing risk or treating disorders. The summary provides an overview of genetic counselling, including its definition, purpose of informing decisions, and the counsellor's role in helping clients understand inheritance and implications of genetic conditions.
Genetic counseling is a process that provides information about inherited disorders to allow informed choices about reproduction and management. It follows the characteristics of counseling by communicating between counselors and families confronting genetic disorders. The steps of genetic counseling involve taking an accurate history, constructing a pedigree chart, estimating risk, transmitting information, and discussing management options. Genetic counselors work with prenatal, pediatric, adult, and cancer populations to assess risk and discuss testing and management of genetic conditions. Nurses play a role in guiding patients, assisting with decisions, coordinating care, and providing support.
Gene counselling a developing field has more effect on both the developing and developed countries. So this ppt provides the basic idea about genetic counselling
Genetic counseling is a process that provides individuals and families with information about conditions that run in families. It involves gathering a family history, assessing genetic risks, and discussing options. The history of genetic counseling began in the early 20th century as a way to advise people about inherited disorders. Today, genetic counselors are part of healthcare teams that provide risk assessments, education, and support to those at risk for or diagnosed with genetic conditions. The goals of genetic counseling are to provide accurate information and support informed decision making to help individuals and families understand and cope with genetic conditions.
Genetic counseling involves assessing risk factors for genetic disorders, constructing pedigrees, estimating disease risk, providing information to clients, and helping them make decisions. It aims to educate clients, provide support, and allow for informed reproductive choices. Genetic counselors are specially trained to communicate complex genetic information in a caring, non-directive manner. They work with clients in a variety of settings to address legal, ethical and psychosocial issues surrounding genetic testing and diagnosis. Nurses play an important supporting role by recognizing genetic conditions, assisting with testing and counseling, and providing ongoing education and support.
Birth Defects: Care, preventing and counsellingPiLNAfrica
Birth Defects was written for healthcare workers who look after individuals with birth defects, their families, and women who are at increased risk of giving birth to an infant with a birth defect. This book is being used in the Genetics Education Programme which trains healthcare workers in genetic counselling in South Africa. It covers: modes of inheritance, medical genetic counselling, birth defects due to chromosomal abnormalities, single gene defects, teratogens, multifactorial inheritance
https://userupload.net/06gt5zcwvh90
Genetic counseling is the process of advising individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease.[1] The process integrates:
Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence
Education about inheritance, testing, management, prevention, resources
Counseling to promote informed choices and adaptation to the risk or condition.
Genetic counseling is a process that employs scientific knowledge of genetics and communication skills to help individuals understand genetic diagnoses and their implications. It involves gathering a family history, educating about genetic conditions and testing, and counseling to promote informed decision making. The goal is to address concerns relating to hereditary disorders and support adaptation to genetic risks or conditions.
Genetic counselling is a process of advising individuals and families about genetic disorders and risks. It aims to help people understand genetic contributions to disease, interpret test results, and make informed decisions. A genetic counsellor obtains a family history, conducts assessments and tests, then communicates risks and options. They educate about inheritance, provide accurate information, and allow informed reproductive choices. Nurses play a role by guiding prenatal testing, supporting decisions, coordinating care for children with birth defects, and ensuring ethical practices. Overall, genetic counselling enables informed decisions while respecting personal autonomy.
A gene is the basic physical and functional unit of hereditySaheli Mukherjee
Genes contain DNA instructions to make proteins and determine inherited traits. Dominant alleles produce their trait when present in one copy, while recessive alleles require two copies to produce their trait. Genetic counseling helps people understand and adapt to genetic conditions by interpreting family histories, providing education, and promoting informed choices. It involves pre-test counseling to provide informed consent and post-test counseling to disclose and discuss test results and follow-up plans. Genetic counselors are specially trained to obtain risk assessments, explain adjusted cancer risks based on family history and tests, and provide information and support for inherited predispositions.
Genetics Series Genetic Counselling.pptxMathew Joseph
This document describes the principles and process of genetic counseling. Genetic counseling involves assessing a person's risk of inherited conditions based on family history and diagnostic testing. The counselor provides information on genetic disorders, diagnoses conditions, assesses inheritance patterns, and offers medical, psychological and reproductive support. The process of genetic counseling involves taking a clinical history, constructing a pedigree chart, making diagnoses using various tests, explaining the risk assessment, providing advice and support, and following up as needed. The goal is to educate patients and help prevent transmission of genetic diseases.
NACCHO 2018 National Conference – Improving the clinical benefits of genetic ...NACCHOpresentations
This document discusses genomic medicine and improving access for Aboriginal and Torres Strait Islander patients. It aims to increase awareness of available genetic services and support providers in referring Indigenous patients. The Better Indigenous Genetic Health Services project assessed current approaches through community and provider input. Knowing one's genetic conditions can guide treatment, trials, and support. However, referral and access to diagnosis and support must be equitable. Recognition of genetic conditions in Indigenous populations can be difficult due to atypical presentations. Local genetic and phenotypic information is needed for accurate diagnosis. Inclusive practice can benefit individuals and develop more widely applicable treatments, while lack of diversity limits these opportunities and worsens health equity.
Genetic counseling is a process that provides information about inherited disorders and allows people to make informed choices. It involves taking a family history, constructing a pedigree chart to assess risk, educating people about genetic disorders and inheritance patterns, and offering psychosocial support. The goals are to provide accurate information to reassure or guide reproductive decisions, and connect people to resources. Both counselors and clients see the interpersonal connection and comprehensive information provision as key outcomes.
This document provides an introduction to medical genetics. It discusses how genetics deals with heredity and variation, with genes being the units of heredity that influence traits. Variations exist among organisms of the same species. Genetic disorders can be caused by abnormalities in DNA that are inherited or occur somatically. Major types of genetic diseases include single-gene disorders, chromosome disorders, multifactorial disorders, and mitochondrial or somatic cell genetic disorders. Medical genetics focuses on the genetic basis of disease diagnosis, treatment and counseling.
1. The document discusses the eugenics movement and genetic counseling. Eugenics aims to improve the human species through selective breeding by encouraging reproduction among genetically advantageous individuals and discouraging it among genetically disadvantaged individuals.
2. Genetic counseling involves obtaining a family history, establishing a diagnosis, discussing genetic testing options, providing risk assessments, discussing options available to patients, and long-term follow-up support. Nurses play an important role in genetic counseling by educating patients and the public.
3. Legal and ethical issues in genetic counseling include obtaining informed consent, allowing for informed choice, respecting patient autonomy, and maintaining confidentiality. The goal of genetic counseling is to allow patients to make their own independent
Genetic counseling: Introduction, definition, purposes of genetic counseling, indications of genetic counseling, beneficiaries of genetic counseling, phases of genetic counseling, role of nurse in genetic counseling, application of genetic counseling.
This document discusses genetic counseling and related issues. It defines genetics as the study of genes and heredity, and counseling as a form of talk therapy. Genetic counseling refers to guidance from a genetic counselor about genetic disorders, risks, and test results to help individuals and families make informed medical decisions. The goals of genetic counseling include helping people understand test results, address emotional concerns, and connect with support services. Key aspects addressed are the counseling process, common issues like ensuring informed consent, and ethical considerations around testing and treatment options.
Genetic counseling is a process that provides patients information about inherited disorders and risks. It involves interpreting family histories, educating about genetic testing options, and counseling to promote informed decision making. Genetic counselors have advanced degrees and provide non-directive support and advice to help patients understand genetic conditions, risks, and make decisions. Common reasons for genetic counseling include family histories of conditions, advanced parental age, abnormal test results, and ethnic backgrounds with increased risks. Counseling sessions provide information to help patients decide whether to undergo further screening or diagnostic testing during pregnancy.
Counseling is a process of communicating between two or more persons who meet to solve a problem, resource a curse or take decision on various matters. It is not a one way process where in the counseling tells the client what to do nor it is a forum for presentation of the counselor’s values.
Genetic counseling process follows these basic characteristic of a counseling process. It is undertaken with families confronted with genetic and inherited disorders.
The document discusses the practical applications of genetics in nursing. It begins by introducing Gregor Mendel's work in heredity and genetics. Nurses play a role in ensuring patients have access to current genetic information, diagnosis, and treatment. Understanding genetics allows nurses to better comprehend the genetic basis of diseases and contribute to health promotion. Key applications of genetics knowledge in nursing include understanding disease causation, providing genetic counseling and education, managing genetic disorders, making referrals, and addressing the social and ethical issues surrounding genetics. The document also notes how genetic conditions can impact families.
Eugenics is the science of improving genetic qualities in a population. It involves positive eugenics, which aims to increase reproduction among genetically advantaged groups, and negative eugenics, which aims to decrease reproduction among genetically disadvantaged groups. The goal of eugenics is to improve the genetic composition of populations by identifying genetic disorders and employing measures like genetic counseling, marriage restrictions, sterilization and abortion to reduce hereditary disease.
This document provides an overview of a symposium on culturally effective care for LGBT populations. It begins with an agenda that includes differentiating key terms, defining intersectionality, identifying health disparities and social determinants of health, and applying concepts through a case study. The document then defines various terms related to gender identity, sexual orientation, sex, and development. It reviews the history of pathologization of LGBT identities in medicine and mental health. Statistics on demographics and health disparities experienced by LGBT populations are presented. Strategies for providing culturally effective care include creating an inclusive environment, building trust, ensuring confidentiality, and using inclusive language. Local and national resources for LGBT care are also listed.
This slide is special for master students (MIBS & MIFB) in UUM. Also useful for readers who are interested in the topic of contemporary Islamic banking.
How to Add Chatter in the odoo 17 ERP ModuleCeline George
In Odoo, the chatter is like a chat tool that helps you work together on records. You can leave notes and track things, making it easier to talk with your team and partners. Inside chatter, all communication history, activity, and changes will be displayed.
Gene counselling a developing field has more effect on both the developing and developed countries. So this ppt provides the basic idea about genetic counselling
Genetic counseling is a process that provides individuals and families with information about conditions that run in families. It involves gathering a family history, assessing genetic risks, and discussing options. The history of genetic counseling began in the early 20th century as a way to advise people about inherited disorders. Today, genetic counselors are part of healthcare teams that provide risk assessments, education, and support to those at risk for or diagnosed with genetic conditions. The goals of genetic counseling are to provide accurate information and support informed decision making to help individuals and families understand and cope with genetic conditions.
Genetic counseling involves assessing risk factors for genetic disorders, constructing pedigrees, estimating disease risk, providing information to clients, and helping them make decisions. It aims to educate clients, provide support, and allow for informed reproductive choices. Genetic counselors are specially trained to communicate complex genetic information in a caring, non-directive manner. They work with clients in a variety of settings to address legal, ethical and psychosocial issues surrounding genetic testing and diagnosis. Nurses play an important supporting role by recognizing genetic conditions, assisting with testing and counseling, and providing ongoing education and support.
Birth Defects: Care, preventing and counsellingPiLNAfrica
Birth Defects was written for healthcare workers who look after individuals with birth defects, their families, and women who are at increased risk of giving birth to an infant with a birth defect. This book is being used in the Genetics Education Programme which trains healthcare workers in genetic counselling in South Africa. It covers: modes of inheritance, medical genetic counselling, birth defects due to chromosomal abnormalities, single gene defects, teratogens, multifactorial inheritance
https://userupload.net/06gt5zcwvh90
Genetic counseling is the process of advising individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease.[1] The process integrates:
Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence
Education about inheritance, testing, management, prevention, resources
Counseling to promote informed choices and adaptation to the risk or condition.
Genetic counseling is a process that employs scientific knowledge of genetics and communication skills to help individuals understand genetic diagnoses and their implications. It involves gathering a family history, educating about genetic conditions and testing, and counseling to promote informed decision making. The goal is to address concerns relating to hereditary disorders and support adaptation to genetic risks or conditions.
Genetic counselling is a process of advising individuals and families about genetic disorders and risks. It aims to help people understand genetic contributions to disease, interpret test results, and make informed decisions. A genetic counsellor obtains a family history, conducts assessments and tests, then communicates risks and options. They educate about inheritance, provide accurate information, and allow informed reproductive choices. Nurses play a role by guiding prenatal testing, supporting decisions, coordinating care for children with birth defects, and ensuring ethical practices. Overall, genetic counselling enables informed decisions while respecting personal autonomy.
A gene is the basic physical and functional unit of hereditySaheli Mukherjee
Genes contain DNA instructions to make proteins and determine inherited traits. Dominant alleles produce their trait when present in one copy, while recessive alleles require two copies to produce their trait. Genetic counseling helps people understand and adapt to genetic conditions by interpreting family histories, providing education, and promoting informed choices. It involves pre-test counseling to provide informed consent and post-test counseling to disclose and discuss test results and follow-up plans. Genetic counselors are specially trained to obtain risk assessments, explain adjusted cancer risks based on family history and tests, and provide information and support for inherited predispositions.
Genetics Series Genetic Counselling.pptxMathew Joseph
This document describes the principles and process of genetic counseling. Genetic counseling involves assessing a person's risk of inherited conditions based on family history and diagnostic testing. The counselor provides information on genetic disorders, diagnoses conditions, assesses inheritance patterns, and offers medical, psychological and reproductive support. The process of genetic counseling involves taking a clinical history, constructing a pedigree chart, making diagnoses using various tests, explaining the risk assessment, providing advice and support, and following up as needed. The goal is to educate patients and help prevent transmission of genetic diseases.
NACCHO 2018 National Conference – Improving the clinical benefits of genetic ...NACCHOpresentations
This document discusses genomic medicine and improving access for Aboriginal and Torres Strait Islander patients. It aims to increase awareness of available genetic services and support providers in referring Indigenous patients. The Better Indigenous Genetic Health Services project assessed current approaches through community and provider input. Knowing one's genetic conditions can guide treatment, trials, and support. However, referral and access to diagnosis and support must be equitable. Recognition of genetic conditions in Indigenous populations can be difficult due to atypical presentations. Local genetic and phenotypic information is needed for accurate diagnosis. Inclusive practice can benefit individuals and develop more widely applicable treatments, while lack of diversity limits these opportunities and worsens health equity.
Genetic counseling is a process that provides information about inherited disorders and allows people to make informed choices. It involves taking a family history, constructing a pedigree chart to assess risk, educating people about genetic disorders and inheritance patterns, and offering psychosocial support. The goals are to provide accurate information to reassure or guide reproductive decisions, and connect people to resources. Both counselors and clients see the interpersonal connection and comprehensive information provision as key outcomes.
This document provides an introduction to medical genetics. It discusses how genetics deals with heredity and variation, with genes being the units of heredity that influence traits. Variations exist among organisms of the same species. Genetic disorders can be caused by abnormalities in DNA that are inherited or occur somatically. Major types of genetic diseases include single-gene disorders, chromosome disorders, multifactorial disorders, and mitochondrial or somatic cell genetic disorders. Medical genetics focuses on the genetic basis of disease diagnosis, treatment and counseling.
1. The document discusses the eugenics movement and genetic counseling. Eugenics aims to improve the human species through selective breeding by encouraging reproduction among genetically advantageous individuals and discouraging it among genetically disadvantaged individuals.
2. Genetic counseling involves obtaining a family history, establishing a diagnosis, discussing genetic testing options, providing risk assessments, discussing options available to patients, and long-term follow-up support. Nurses play an important role in genetic counseling by educating patients and the public.
3. Legal and ethical issues in genetic counseling include obtaining informed consent, allowing for informed choice, respecting patient autonomy, and maintaining confidentiality. The goal of genetic counseling is to allow patients to make their own independent
Genetic counseling: Introduction, definition, purposes of genetic counseling, indications of genetic counseling, beneficiaries of genetic counseling, phases of genetic counseling, role of nurse in genetic counseling, application of genetic counseling.
This document discusses genetic counseling and related issues. It defines genetics as the study of genes and heredity, and counseling as a form of talk therapy. Genetic counseling refers to guidance from a genetic counselor about genetic disorders, risks, and test results to help individuals and families make informed medical decisions. The goals of genetic counseling include helping people understand test results, address emotional concerns, and connect with support services. Key aspects addressed are the counseling process, common issues like ensuring informed consent, and ethical considerations around testing and treatment options.
Genetic counseling is a process that provides patients information about inherited disorders and risks. It involves interpreting family histories, educating about genetic testing options, and counseling to promote informed decision making. Genetic counselors have advanced degrees and provide non-directive support and advice to help patients understand genetic conditions, risks, and make decisions. Common reasons for genetic counseling include family histories of conditions, advanced parental age, abnormal test results, and ethnic backgrounds with increased risks. Counseling sessions provide information to help patients decide whether to undergo further screening or diagnostic testing during pregnancy.
Counseling is a process of communicating between two or more persons who meet to solve a problem, resource a curse or take decision on various matters. It is not a one way process where in the counseling tells the client what to do nor it is a forum for presentation of the counselor’s values.
Genetic counseling process follows these basic characteristic of a counseling process. It is undertaken with families confronted with genetic and inherited disorders.
The document discusses the practical applications of genetics in nursing. It begins by introducing Gregor Mendel's work in heredity and genetics. Nurses play a role in ensuring patients have access to current genetic information, diagnosis, and treatment. Understanding genetics allows nurses to better comprehend the genetic basis of diseases and contribute to health promotion. Key applications of genetics knowledge in nursing include understanding disease causation, providing genetic counseling and education, managing genetic disorders, making referrals, and addressing the social and ethical issues surrounding genetics. The document also notes how genetic conditions can impact families.
Eugenics is the science of improving genetic qualities in a population. It involves positive eugenics, which aims to increase reproduction among genetically advantaged groups, and negative eugenics, which aims to decrease reproduction among genetically disadvantaged groups. The goal of eugenics is to improve the genetic composition of populations by identifying genetic disorders and employing measures like genetic counseling, marriage restrictions, sterilization and abortion to reduce hereditary disease.
This document provides an overview of a symposium on culturally effective care for LGBT populations. It begins with an agenda that includes differentiating key terms, defining intersectionality, identifying health disparities and social determinants of health, and applying concepts through a case study. The document then defines various terms related to gender identity, sexual orientation, sex, and development. It reviews the history of pathologization of LGBT identities in medicine and mental health. Statistics on demographics and health disparities experienced by LGBT populations are presented. Strategies for providing culturally effective care include creating an inclusive environment, building trust, ensuring confidentiality, and using inclusive language. Local and national resources for LGBT care are also listed.
This slide is special for master students (MIBS & MIFB) in UUM. Also useful for readers who are interested in the topic of contemporary Islamic banking.
How to Add Chatter in the odoo 17 ERP ModuleCeline George
In Odoo, the chatter is like a chat tool that helps you work together on records. You can leave notes and track things, making it easier to talk with your team and partners. Inside chatter, all communication history, activity, and changes will be displayed.
Exploiting Artificial Intelligence for Empowering Researchers and Faculty, In...Dr. Vinod Kumar Kanvaria
Exploiting Artificial Intelligence for Empowering Researchers and Faculty,
International FDP on Fundamentals of Research in Social Sciences
at Integral University, Lucknow, 06.06.2024
By Dr. Vinod Kumar Kanvaria
How to Manage Your Lost Opportunities in Odoo 17 CRMCeline George
Odoo 17 CRM allows us to track why we lose sales opportunities with "Lost Reasons." This helps analyze our sales process and identify areas for improvement. Here's how to configure lost reasons in Odoo 17 CRM
Biological screening of herbal drugs: Introduction and Need for
Phyto-Pharmacological Screening, New Strategies for evaluating
Natural Products, In vitro evaluation techniques for Antioxidants, Antimicrobial and Anticancer drugs. In vivo evaluation techniques
for Anti-inflammatory, Antiulcer, Anticancer, Wound healing, Antidiabetic, Hepatoprotective, Cardio protective, Diuretics and
Antifertility, Toxicity studies as per OECD guidelines
A Strategic Approach: GenAI in EducationPeter Windle
Artificial Intelligence (AI) technologies such as Generative AI, Image Generators and Large Language Models have had a dramatic impact on teaching, learning and assessment over the past 18 months. The most immediate threat AI posed was to Academic Integrity with Higher Education Institutes (HEIs) focusing their efforts on combating the use of GenAI in assessment. Guidelines were developed for staff and students, policies put in place too. Innovative educators have forged paths in the use of Generative AI for teaching, learning and assessments leading to pockets of transformation springing up across HEIs, often with little or no top-down guidance, support or direction.
This Gasta posits a strategic approach to integrating AI into HEIs to prepare staff, students and the curriculum for an evolving world and workplace. We will highlight the advantages of working with these technologies beyond the realm of teaching, learning and assessment by considering prompt engineering skills, industry impact, curriculum changes, and the need for staff upskilling. In contrast, not engaging strategically with Generative AI poses risks, including falling behind peers, missed opportunities and failing to ensure our graduates remain employable. The rapid evolution of AI technologies necessitates a proactive and strategic approach if we are to remain relevant.
Macroeconomics- Movie Location
This will be used as part of your Personal Professional Portfolio once graded.
Objective:
Prepare a presentation or a paper using research, basic comparative analysis, data organization and application of economic information. You will make an informed assessment of an economic climate outside of the United States to accomplish an entertainment industry objective.
Strategies for Effective Upskilling is a presentation by Chinwendu Peace in a Your Skill Boost Masterclass organisation by the Excellence Foundation for South Sudan on 08th and 09th June 2024 from 1 PM to 3 PM on each day.
4. Genetics
• The term genetics was introduced by Bateson in
1906.It has been derived from Greek word ‘gene’
which means ‘to become’ or ‘to grow into.
4
6. Genetics
• Genetics is defined as a branch of medical
science which concerned with the transmission
of characteristics from parents to offspring.
6
Ref: Jorde Lynn B. Medical Genetics. Mosby, 2005.
King RC, Stansfield WD. Dictionary of Genetics. 3rd edn. Oxford: Oxford
University Press, 1985.
7. General concept
Genetic: Branch of science which studies genes
and the pattern of inheritance of particular diseases
Inheritance: The passing of familial elements from
one generation to the next.
7
Ref: Jorde Lynn B. Medical Genetics. Mosby, 2005.
King RC, Stansfield WD. Dictionary of Genetics. 3rd edn. Oxford: Oxford
University Press, 1985.
8. 8
Gene – Basic unit of genetic information. Genes
determine the inherited characters. It is the
functional subunit of DNA and contain instruction for
making protein.
Chromosomes – storage units of genes. A structure
within the cell that deliver the genetic material as
DNA.
Ref: Jorde Lynn B. Medical Genetics. Mosby, 2005.
King RC, Stansfield WD. Dictionary of Genetics. 3rd edn. Oxford: Oxford
University Press, 1985.
9. 9
DNA - is a nucleic acid that contains the genetic
instructions specifying the biological development of
all cellular forms of life Molecule encodes the
genetic information.
Genome – the collection of genetic information.
Carrier individual- individual who appear normal
but has one copy of mutant gene.
Ref: Jorde Lynn B. Medical Genetics. Mosby, 2005.
King RC, Stansfield WD. Dictionary of Genetics. 3rd edn. Oxford: Oxford
University Press, 1985.
10. 10
Phenotype: an appearance or characteristic of an
individual, which results from the interaction of the
person’s genetic makeup and his/her environment.
Genotype: the genetic constitution (genome) of a
cell, an individual or an organism.
Ref: Jorde Lynn B. Medical Genetics. Mosby, 2005.
King RC, Stansfield WD. Dictionary of Genetics. 3rd edn. Oxford: Oxford
University Press, 1985.
11. 11
Autosomal Dominant: it is one of several ways that
a trait or disorder can be passed down through
families.
(Or)
A gene on one of the non-sex chromosomes that is
always expressed, even if only one copy is present.
Autosomal recessive: A pattern of inheritance in
which both copies of an autosomal gene must be
abnormal for a genetic condition or disease to occur
Ref: Jorde Lynn B. Medical Genetics. Mosby, 2005.
King RC, Stansfield WD. Dictionary of Genetics. 3rd edn. Oxford: Oxford
University Press, 1985.
12. They are of 3 types:
1.Chromosomal abnormalities
2.Mendelian diseases
3.Multifactorial disorders
CLASSIFICATION OF GENETIC DISORDERS
12
16. Genetic counselling
Genetic counseling is a process by which patients or
relatives, at risk of an inherited disorder, are
advised of the consequences and nature of the
disorder, the probability of developing or
transmitting it and the options open to them in
management and family planning in order to
prevent or avoid it.
16
17. • Genetic counselling is the process of helping people
understand and adapt to the medical, psychological
and familial implications of genetic contributions to
disease. This process integrates the interpretation of
family and medical histories to assess the chance of
disease occurrence or recurrence, education about
inheritance, testing, management, prevention,
resources and research, and counseling to promote
informed choices and adaptation to the risk or
condition” (NSGC, 2005).National Society of Genetic
Counselors
17
18. Aims of genetic counselling
• The genetic counseling aims to provide the family with
complete and accurate information about genetic
disorders.
1. Promoting informed decisions by involved family
members
2. Clarifying the family’s options available treatment and
prognosis
3. Explaining alternatives to reduce the risk of genetic
disorders
4. Decreasing the incidence of genetic disorders
5. Reducing the impact of the disorders
18
19. WHO ARE GENETIC COUNSELLERS ?
• Postgraduates health professionals with a graduate
diploma or Master's in genetic counseling.
• Experience in the areas of medical genetics and
counseling.
• Identify family at risk, investigates the problems
present in the family, interpret information about the
disorder, analyze inheritance patterns and, risk of re-
occurrence & review available option with the family.
19
20. • Serves as educators and resource people for other
health care professionals and for general public.
• work in administration capacities.
• A team of physician, nurse and social worker who
undergone special training in genetic counseling
• Many engage themselves in research activities
related to the field of medical genetics & genetic
counseling
20
21. WHAT IS THE ROLE OF GENETIC COUNSELLING ?
Genetic Counselors provide genetic information. It is
their counselling skills, including their ability to
empathically connect with their patients that leads to
demands for their skills.
Good Genetic Counselor have many strengths. They
make their clients’ best interest their foremost priority
and are keenly attuned to complex professional and
ethical challenges.
21
22. Genetic Counselor use non-directive counseling
method to provide the best service to those who need
them
To develop a mutual relationship with the client, to
understand her or him, to relieve any psychological
distress, promote a sense of control, and help
find solution to specific problems.
22
23. Assess the client’s strengths, values and needs;
provide an individualization and flexible counseling
style to suite each client’s need and agenda;
develop an awareness of self; and attend to their
own inner life.
23
24. The counselor tends to give advice, make decision,
be coercive, persuasive, influencing, directing and
controlling.
The counselor communicates, enables, explores,
encourages, informs, offers choices, discusses,
promote autonomy, is empathic, non-judgmental,
and respectful of the client.
24
25. PRE-REQUISITES OF GENETIC COUNSELLING IS
• Detailed family history.
• Accurate diagnosis.
• Understanding the medical aspect of the disorder (etiology,
natural history, treatment, prognosis, burden ).
• Understanding the inheritance pattern ( recurrence risk )
• Understanding the psycho-social impact of the information.
• Training / experience in counselling techniques.
• Understanding the concepts of health / disease / healthcare in
the appropriate cultures.
25
26. Function of genetic counselling
session
Provide information
Available solution
Help person to understand and cope with his
condition
Testing the risk of recurrence
26
27. INDICATIONS FOR GENETIC COUNSELLING
1. Hereditary disease in a patient or family
2. Birth defects
3. Mental retardation
4. Advanced maternal age
5. Early onset of cancer in family
6. Miscarriages
7. Malformations
8. Tendency to develop a neurologic conditions
27
28. INFORMATION CONVEYED IN GENETIC COUNSELLING
1. Magnitude of risk of occurrence or recurrence
2. Impact of disease on patient and family
3. Modification of disease impact or risk
4. Anticipated future development
28
30. Genetic counselling ethics
• Respect the right of individual
• Non- directive approach
• Keep privacy of individual and family
• Maintain the communication between counsellor and his
client
30
31. IN SHORT GENETIC COUNSELLING IS
Determine the facts :
• Diagnosis, etiology, and inheritance patterns, prognosis,
natural history, treatment and re-occurrence of risk.
Transmitting the information :
• To those requesting it in a sensitive, culturally appropriate,
understandable way.
Supporting the decision :
• Supporting the decision making process of the couple.
Genetic counselling :
• It is non-directive.
31
32. They are of 2 types:
1.Prospective
2.Retrospective
GENETIC COUNSELLING
32
33. 1. Prospective genetic counselling
This allows for the true prevention of disease.
This approach requires
Identifying heterozygous individuals for any particular
defect by screening
Explaining to them the risk of their having affected children
if they marry another heterozygote for the same gene.
33
34. If heterozygous marriage can be prevented or reduced,
the prospects of giving birth to affected children will
diminish.
EX: Sickle cell anemia
Thalassemia
34
35. 2. Retrospective genetic counselling:
Most genetic counselling at present is retrospective, i.e,
the hereditary disorder has already occurred within the
family .
The methods which could be suggested under retrospective
genetic counselling are:
1.Contraception
2.Pregnancy termination.
35
36. A survey carried out by the WHO showed that
genetic advice was chiefly sought in connection
with congenital abnormalities
• Mental retardation
• Psychiatric illness
• Inborn errors of metabolism
• Premarital advice
36
Ref: Genomics and world health: Report of the advisory committee on
health research, Geneva, WHO (2002).
37. • The WHO recommends the establishment of genetic
counselling centers in sufficient numbers in regions
where infectious disease and nutritional disorders
have been brought under control
• And in areas where genetic disorders have always
constituted a serious public health problem.
37
Ref: Genomics and world health: Report of the advisory committee on
health research, Geneva, WHO (2002).
38. Genetic screening
Definition:
A search in apparently normal population for
individual with abnormal genes which increase their
risk or their offspring of being affected by a disease.
38
40. EARLY DIAGNOSIS AND TREATMENT:
1.DETECTION OF GENETIC CARRIERS :
It is possible to identify the healthy carriers of a
number of genetic disorders, especially the inborn
errors of metabolism.
40
41. 2.PRENATAL DIAGNOSIS:
INDICATIONS:
- Advanced maternal age
- Previous child with chromosome aberration
- Intrauterine growth delay
- Biochemical disorders
- Congenital anomaly
- Screening for neural tube defects and trisomy.
41
42. Pattern of inheritance
• Human cell contain 23 pairs of
chromosomes. 22 pairs autosomal and one
pair sex chromosomes.
• 23chromosomes inherited from mother and
23 chromosomes from father.
• Sex chromosomes: XX for female and XY
for male.
42
43. Genetic pedigree: a diagrammatic representation of
diseases history in a family up to 3rd degree
relative.
43
45. Prenatal diagnosis
45
Prenatal diagnosis forms an integral step in genetic
counselling. In fact, for couples at risk of a disorder,
it is desirable to consider, plan and discuss prenatal
diagnosis even before pregnancy. Discussion and
planning beforehand will eliminate hurried
procedures and emotional trauma as well.
46. 46
Let us now consider the following situations that
warrant prenatal diagnosis:
•It is essential for a genetic disorder in which treatment
is either absent or unsatisfactory.
•Disorder in which an accurate prenatal diagnostic test
is possible.
•Risk to the pregnancy is sufficiently high.
•The genetic disorder itself is severe enough to warrant
termination of pregnancy.
•Lastly the termination of pregnancy should be
acceptable to the concerned couple.
47. 47
In the following cases, prenatal diagnosis is a must:
•Maternal age above 35-40 years.
•If one of the parents is a balanced translocation
carrier.
•In case of an autosomal or X-linked recessive
metabolic disorder that is severe but detectable
prenatally.
•Couple already has one child with a neural tube defect
49. 49
Amniocentesis
• The ideal time to undertake this investigation is
between 14 and 16 weeks when a sufficient amount of
amniotic fluid is available for tapping, without harming
the conceptus.
Procedure:
• Under ultrasound control, placental localisation is done.
• Then under local anaesthesia, the fluid is tapped per
abdomen avoiding injury to the placenta.
• A clear tap, not a blood-stained one, must be ensured.
About 10-20 cc of fluid is taken out and is subjected to
analysis in the laboratory. The cells and fluid are
separated by centrifugation. The cells can be studied
directly or subjected to culture studies for obtaining
foetal karyotype.
50. 50
CHORION VILLOUS BIOPSY
In this procedure, chorionic villi are aspirated with the help of
canula, which is introduced through the cervix uteri. The
procedure is done under ultrasound control. The ideal time
to perform chorion villous sampling (CVS) is 8-10 weeks
period. However, it may be undertaken till almost 12 weeks.
51. 51
Merits
1. As compared to amniocentesis, CVS claims an
advantageous position because it is possible at a much
earlier stage of gestation and is easily accepted by
patients.
2. Faster result is possible because chorion villi contain
enough cells under mitosis so as to permit chromosome
analysis without culture.
If the results indicate abnormality in CVS, then termination of
pregnancy is safer and simpler in first trimester than after
amniocentesis (around 18 weeks), which amounts to second
trimester abortion
52. 52
ULTRASONOGRAPHY
The underlying principle in this procedure is that the echoes
generated by the reflection of ultrasound waves are displayed
in one of the two ways:
1. B (brightness) Mode: In this, a cross-section of the anatomy
is created as transducer is moved across an area.
2. Real Time Imaging: In this, repetitive B-mode images are
generated in rapid sequence, allowing appreciation of
motion.
.
53. 53
Basically, ultrasound serves as an ancillary to
amniocentesis. It is helpful in the following ways:
1. Localisation of placenta in amniocentesis or CVS
2. To ascertain gestational age
3. Exclude multiple pregnancy
4. To recognise defects like anencephaly, spina-
bifida, microcephaly, hydrocephalous, etc.
5. Limb defects are also evident on ultrasound
54. 54
FOETOSCOPY
The procedure involves visualisation of foetus using a
fibre optic self-illuminated instrument called foetoscope.
It is inserted in the amniotic cavity under local
anaesthesia. It is usually done around 18-22 weeks of
gestation. With this, one can detect limb malformations,
facial defects (cleft lip, cleft palate, ear defects) or
defects involving the genitals.
The procedure carries a risk of abortion to the tune of
3%-5%. Foetoscopy is useful in obtaining foetoscopic
skin biopsy and foetal blood sampling.
55. 55
FOETAL BLOOD SAMPLING (FBS)
It can be done in two ways:
1. Placental aspiration (indirect tap)
2. Sampling under direct vision
In the former technique, both maternal and foetal blood cells are mixed
need to be separated before sample processing. In the second case,
sample is obtained under direct vision using a foetoscope. Both
techniques carry about 10% risk of abortion. There are number of
conditions in which FBS is needed to make prenatal diagnosis. They are
as follows:
1. Sickle cell disease
2. Thalassaemias
3. Haemophilia A
4. Duchenne muscular dystrophy
5. Immune deficiency disorders
56. MATERNAL SERUM SAMPLE
• Estimation of AFP(alpha-fetoprotein) in maternal serum is
used as a screening test for the detection of neural tube
defect. This test is advocated for all pregnant women,
realising the fact that about 90% babies with a neural tube
defect are born to couples having no family history of such
disorder.
• Maternal serum shows AFP increment during 16-18 weeks of
gestation. Elevated AFP in maternal serum is encountered in
other conditions, e.g. twin pregnancy and missed or threatened
abortion. Having noted elevated AFP, the patient is referred for
ultrasonography and subsequently amniocentesis.
56
57. PREIMPLANTATION DIAGNOSIS
• It involves egg retrieval from the female followed by in vitro
fertilisation (IVF). The fertilised oocyte is allowed to develop
in vitro up to 8 cell stage. A single cell (blastomere) from this
group is removed, its DNA extracted and amplified by PCR
and then analysed to see if there is genetic disorder. If the
analysis does not reveal any defect, the conceptus is
implanted into the mother's womb. In X-linked recessive traits
such as Duchenne muscular dystrophy, the preimplantation
diagnosis is used to determine sex of conceptus (since only
males are affected).
57
58. 58
Demerits and Limitations
1. Despite PCR even in the best hands, procedure
using single cell meets a failure rate of 10%-20%.
2. There is a significant risk of false results because of
contamination. Hence, it is safe that an adverse
result of preimplantation diagnosis should be
followed by invasive prenatal diagnosis using CVS
for confirmation.
59. 1.HEALTH PROMOTIONAL MEASURES:
A.EUGENICS:
a. Negative eugenics:
AIM: To reduce the frequency of hereditary disease
and disability in the community to as low as possible
PREVENTIVE AND SOCIAL MEASURES
59
60. B.POSITIVE EUGENICS:
AIM: To improve the genetic composition of the
population by encouraging carriers of desirable
genotypes.
60
61. B.EUTHENICS :
Studies with mentally retarded children indicated that
exposure to environmental stimulation improved their
IQ.
This environmental manipulation is called euthenics.
61
62. OTHER GENETIC PREVENTIVE MEASURES
1.CONSANGUINEOUS MARRIAGES:
When blood relatives marry each other there is
an increased risk in the offspring of traits controlled
by recessive genes and those determined by
polygenes.
EX: Albinism, Alkaptonuria, Phenylketonuria
62
63. An increased risk of premature death is also noted in
such offspring.
Therefore, a lowering of consanguineous marriages
would be advantageous to the health of the
community.
63
64. 2.LATE MARRIAGES:
Trisomy or mongolism is more frequent in children
born of elderly mothers.
Hence early marriage of females is better than late
marriage from the point of view of preventing
mongolism.
64
66. Rh haemolytic disease of the newborn which is a
genetically determined immunological disorder is
now preventable by immunization by anti D globulin.
66
67. Conclusion
• Many diseases have genetic root
• The genetic screening is an essential issue
in most stages of the life.
• Genetic counselling aim is to bridge the
gap for people between genetic field
complexity and their life.
67
68. Reference
1. Jorde Lynn B. Medical Genetics. Mosby, 2005.
2. King RC, Stansfield WD. Dictionary of Genetics.
3rd edn. Oxford: Oxford University Press, 1985.
3. Harper P. Practical Genetic Counselling. Oxford:
Butterworth Heinemann,1993.
68
69. 69
4. Brock DJH, Rodeck CH, Ferguson Smith MA.
Prenatal Diagnosis and Screening. Edinburgh:
Edinburgh:Churchill Livingstone, 1992.
5. Lilford RJ. Prenatal Diagnosis and Prognosis.
London: Butterworth,1990.
6. K.park’s textbook of preventive and social
medicine. 2015, 23rd edition, bhanot
publishers.
7. Genomics and world health: Report of the
advisory committee on health research,
Geneva,WHO (2002).