Basic Principles of Heredity and Genetic Counselling

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The importance of genetics in clinical medicine is ever increasing. In Nigeria, this is foreshadowing the prospects of an era of personalized intervention strategies whereby clinical decision-making will be individually tailored, informed by a patient’s genetic code.

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Basic Principles of Heredity and Genetic Counselling :

Basic Principles of Heredity and Genetic Counselling ILESANMI Oluwatoyin Olatundun Ph.D in Clinical Psychology ; USIP Certificate in Conflict Analysis; PN & M & Trained Genetic Counsellor Contact Details: Center for Gender and Social Policy Studies, Obafemi Awolowo University, Ile-Ife, Osun State, Nigeria. E-mail : toytundun@yahoo.com Phone: 0234-8052236377 Dr Ilesanmi Oluwatoyin Olatundun is concerned with taking care of people with the Sickle Cell Disorder, to create awareness for the Prevention and Control of Sickle Cell Disorder, research and awareness creating through Information, psycho-education and Communication, Screening and genetic counselling .

Abstract:

Abstract The importance of genetics in clinical medicine is ever increasing . In Nigeria , this is foreshadowing the prospects of an era of personalized intervention strategies whereby clinical decision-making will be individually tailored, informed by a patient’s genetic code . Integration of Genetic Counselling into clinical practice in Nigeria therefore necessitates the writing of this paper. 3/9/2012 2 Oluwatoyin OlatundunILESANMI 234-8052236377 toytundun@aol.com

Introduction:

Introduction Genetic counselling refers to the process of communicating information about genetic risks. It is aimed at helping families or individuals understand the implications of a definitive diagnosis or a risk for a disease, and the hereditary implications for the patient, parents and when indicated, other family members. It focuses mainly on susceptibility to disease in individuals who are: Suspected of having a heritable disease. At risk because of their family history Concerned about the possibility of having an affected child based upon personal or family history, age or ethnicity 3/9/2012 Oluwatoyin OlatundunILESANMI 234-8052236377 toytundun@aol.com 3

Three Major Groups of Genetic Disorders:

Three Major Groups of Genetic Disorders : Mendelian (single gene) disorders : transmission (co-inherited) from parental strains to offspring in a predictable and reproducible manner. - joint effects of two paired genes, with each parents contributing one allele at conception. ( Autosomal dominant disorders, Autosomal recessive disorders, X-linked recessive disorders ) Chromosome disorders : Has either excessive or deficient chromosomal DNA. - an extra chromosome ( Trisomy 21) deviation in the number of sex chromosomes Multi-factorial (poly gene) disorders : Result from the interaction of many gene pairs with one another and with environmental factors. This includes congenital malformations such as cleft lip, cleft palate, clubfoot, and defects of the developing nervous system. 3/9/2012 Oluwatoyin OlatundunILESANMI 234-8052236377 toytundun@aol.com 4

Genetic Counselling Principles:

Genetic Counselling Principles These are moral, ethical and philosophical considerations emerging as major issues arising from the applications of diagnostic techniques and genetic counselling which present the consultee and the counselor with three options: prenatal diagnosis and choices like abortion of a genetically defective fetus, artificial insemination, and gene therapy. For the consultee , these often result in conflicts between societal norms (or moral rules) and the principles to help whenever the genetic risks are high. 3/9/2012 Oluwatoyin OlatundunILESANMI 234-8052236377 toytundun@aol.com 5

Principles:

Principles Moral considerations : GC principles are morally neutral but the use to which this body of knowledge is applied shall be dictated by the norms of the society rather than the imperatives inherent in genetics which are facts that propel patients to particular kinds of actions such as abortions. e.g. choice to abort any pregnancy Ethical and philosophical considerations : The counselor may come across other findings which may expose him/her to serious ethical dilemma. Some of these are foetal sex, findings of questionable or potentially harmful significance, false paternity and so on. In terms of foetal sex, some parents may misinterpret the indication and seek for abortion because of undesired sex 3/9/2012 Oluwatoyin OlatundunILESANMI 234-8052236377 toytundun@aol.com 6

Ethical Guidelines and Approaches Principles:

Ethical Guidelines and Approaches Principles Non-directive counselling : The counselor is expected to give a non-directive counselling which involves the presentation of the facts in an unbiased manner, leaving the entire responsibility of decision with the consultee . It is an individual-centered approach to care by focusing on the thoughts and feelings of each person. Parental autonomy in abortion choices PND must be provided when parents need the information to prepare themselves for the birth of a possibly affected child Practitioners need to disclose to the consultee the risks and benefits of each procedure in PND In case putative father is not the biological father of the foetus , the mother to be informed first to avoid social problems and she may be left to take final decision Medical genetists to determine which of the disorders warrants the option of prenatal diagnosis and termination of pregnancy and Consequences from the above to be evaluated in terms of basic ethical principles, and critical tests of what is best for the individuals, groups and society. 3/9/2012 Oluwatoyin OlatundunILESANMI 234-8052236377 toytundun@aol.com 7

National Society of Genetic Counsellors’ Code of Ethics to guide counselors :

National Society of Genetic Counsellors’ Code of Ethics to guide counselors Beneficence in the promotion of personal well-being in others. The genetic counselor is an advocate for the counselee. Non- maleficience is the concept of doing no harm to a person Autonomy in recognition of the value of the individual, the person’s abilities and point of views. Important aspects of autonomy are truthfulness with persons, respecting confidentiality, and practicing informed consent Justice in providing equal care of all, freedom of choice, and providing a high quality of care. 3/9/2012 Oluwatoyin OlatundunILESANMI 234-8052236377 toytundun@aol.com 8

Conclusion:

Conclusion Genetic counselling is a practical method of communicating information about genetic risks. It based on the practice of non-directive counselling The decision taken by consultees after the counselling session must leave them satisfied instead of placing them in a state of dilemma. 3/9/2012 Oluwatoyin Olatundun ILESANMI 234-8052236377 toytundun@aol.com 9

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Thank you 3/9/2012 Oluwatoyin Olatundun ILESANMI 234-8052236377 toytundun@aol.com 10

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