A monthly forum discussion on ‘Genomics in medicine: clinical genetics, genetic testing and counseling’ has been held at Ayder Enlightenment Forum, CHS-MU on May 10, 2019.

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Dr. Zewdu Terefework, as guest speaker, presents regarding Genomics in Medicine in general. According to him, the history of genetics citing the old known inborn error of metabolism called alkaptonuria; this was observed by the early 1900. Hence, Factors hindering development of medical genetics were discussed and included: politics of eugenics, practical difficulties, physician attitudes and sociology of scientific disciplines.

Also, recent key innovation in genetics was described to be increasing number of sequencing reactions. And, with the advance of genomics, over 6000 Mendelian disorders have been described and more than 150000 disease associated variants as well identified. The leading causes of global deaths have genetic basis in significant percentage; for example, 13.7 % in heart disease. Moreover, vast majority of traits were discussed to be multigenic and genetic variants interact with the environment. Translation in genomics requires education, logistics and outreach services.

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 In relation to medical genomics, personalized medicine was presented and referred to using information about a person’s genetic make – up to tailor strategies for detection, treatment, and prevention of disease.” Genomic medicine will change health care by providing knowledge of individual genetic predispositions, creating pharmacogenomics and allowing population based screening for certain Mendelian disorders. Hence, Pharmacogenomics will allow individualized medication use based on genetically determined variation in effects and side effects, use of medications otherwise rejected because of side effects and new medications for specific genotypic and disease subtypes. And Knowledge of individual genetic predispositions will allow individualized screening, individualized behavior changes, presymptomatic medical therapies like anti – colon cancer agents before cancer develops, antihypertensives before hypertension develops, said the presenter.

Genomic medicine will change health care by providing better understanding of non – genetic (environmental) factors in health and disease, emphasizing health maintenance rather than disease treatment, allowing genetic engineering and a fundamental understanding of the etiology of many diseases, even “non – genetic.” And, genomics may include characteristics like height, intelligence, sexual orientation, alcoholism, violence, happiness – sadness, confidence – anxiety and altruism – greed. Genomics makes good income as well, Dr. Zewdu Terefework added. So, the whole genome sequencing that has more than 3 billion base pairs (alphabet); it took more than 3 billion USD yet clinical genetic testing currently is appearing in an affordable manner.

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 The issue of ethical practice with genomics was raised particularly in relation to status of the fetus as a patient, fetus – mother relationship and the relationship between the fetus and code of law, wisdom and ethics of abortion.

Screening programs including prenatal and newborn the latter of which was detailed more including early detection, timely intervention, and efficacious treatment. The WHO recommends newborn screening program in countries which achieved infant mortality to less 50 per 1000 live births, which makes our country eligible. Experiences from developing countries show that infant screening can be started with certain limited conditions. Creating a national registry of birth defects was also emphasized in his presentation, which is beleived to help to reveal burden, anticipation and early management.

Referrals to a geneticist, in summary, are for diagnosis, communications to clients because the geneticist has better knowledge with the descriptions and terminologies, informed decision making, management and follow up. Our guest concluded with the idea of establishing Ethiopian/ African genomes to make a good allele adding that such demands a robust network of molecular biologists, health care workers, bioinfomaticians, technologists, drug developers, IT specialists, and genetic counselors; moreover, there are fantastic opportunities in agriculture, food safety, drug development, and technological development as well. He also visited our hospital facilities and promised to donate some equipment to our microbiology laboratory and is going to help and showed willingness come to share his expertise whenever our institute demands.

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Afterwards, audiences raised very good practical points and the ethical practice of genomic medicine and training of our staff took the precedence of discussion.

Chief executive director of CHS and ACSH – Dr Amanuel Haile concluded the forum after emphasizing on ethical practice of genomics, raising it is a high time to start paternity determination locally because it facilitates the legal processes by the judiciary, and opened an opportunity for collaboration in training our staffs, bringing the services to our institute and others in our country and bringing international collaborators as well.