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Genetic Counseling for Developing Countries

Genetic Counseling for Developing Countries
Genetic disorders are diseases that are caused by a mutation in the genetic structure of the cell. These mutations can arise from a modification of the nucleic chromatin material, as well as an alteration of one of the coding bases in the DNA structure.

Genetic mutations arise from many different causes and manifest in various ways as well. The genetic mutations can arise at two different levels: at a nucleotide level, or at a chromosomal level. A nucleotide is a building block of DNA- the hereditary, genetic material of any living cell.

Each nucleotide triplet can code for an amino acid, which is, in turn, a building block of proteins. Any insertion or deletion of a nucleotide can lead to a wrong protein structure.

At the chromosomal level, portions of the chromosome- which contains huge portions of the DNA strands- can be altered. Both of these mutations can lead to an alteration of protein structure, which is the physiological and anatomical basis for life.

Genetic mutations can lead to many devastating consequences for those affected by it. Cystic fibrosis, hemophilia, and neurodegenerative diseases like muscular dystrophy are some of the more familiar genetic diseases with terrible implications for the patient.

Genetic diseases are not generally preventable after an individual’s phenotype has been determined. Treatment of certain genetic diseases, such as cystic fibrosis, requires constant medication and therapy. The treatment is also expensive and experimental in most cases and inaccessible in many developing countries.

Genetic counseling is becoming widely popular in the Western, resource-rich countries as a preventative measure for genetic disorders. Genetic counseling involves advising at-risk patients–or those with familial histories of a disease–of the chances of transmitting or developing a disease.

Genetic-Counseling

Many genetic disorders have now been classified on the basis of their mode of transmittance, and parents can be advised of how probable it is for their children to develop the disease. If the probability of affected children is high, they can also be advised of alternative options, as well as the severity of disease if a child is affected.

Unfortunately, genetic testing and genetic counseling are facilities that are unavailable in many places where they are needed. For instance, sickle-cell anemia is a disorder where the red blood cells in the body are of a distorted structure. If untreated or undiagnosed, the disease can have fatal complications for the patient.

Genetic research has indicated the high rate of prevalence of the disease in mid-African populations. Similarly, the risk of genetic diseases is high in many Arab countries, due to inter-family marriage practices.

Despite the high genetic frequency of the sickle cell anemia trait in central Africa, little to no counseling resources are available. For example in Nigeria- where the trait occurs in 20-30 percent of the population- there is not one genetic counseling clinic available.

Studies have reported equally low genetic education in many Arab countries. The lack of knowledge and informative resources for genetic disorders inhibit the prevention of such diseases, which in turn can be a considerable strain on resources as well.

In light of these statistics, there is an exigent need for the establishment of genetic counseling clinics. The stance of many scientists is to spur the research in Western countries to ultimately come up with highly efficient and cost-effective solutions.

However, the high instance of genetic disease and genetic susceptibility to diseases is an issue that needs to be addressed in the present.

The prevention of serious diseases in the developing world can only be partially successful if genetic counseling and testing are omitted. Healthy nations are, after all, capable of realizing their potential to the fullest and providing a better life for their citizens.

– Atifah Safi

Sources: Afro, AJOL, BMJ, Genome, NIH, State
Photo: Google Images, Pixabay

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Tetanus Eradicated in India

Tetanus Eradicated in India
India has eliminated maternal and neonatal tetanus (MNT) as a threat to public health, Prime Minister Narendra Modi announced at the Call to Action 2015 Summit on Aug. 27. The announcement comes ahead of the nation’s goal of December.

Tetanus regularly targets newborns and mothers, usually resulting from births taking place in unsanitary conditions or dirty blades being used to cut umbilical cords.

The eradication of MNT comes 15 years after the creation of a campaign by UNICEF, WHO and UNFPA. The organizations launched the Maternal and Neonatal Tetanus Elimination Initiative in 1999 with the goal of abolishing MNT as a global health problem.

The initiative defines the elimination of MNT as a global health problem as every district having less than one case of neonatal tetanus per 1,000 live births. When that is accomplished, maternal tetanus is deemed eliminated as well.

At the time the initiative was created, there were an estimated 800,000 newborn deaths a year globally as a result of tetanus, according to WHO. That number is now less than 50,000.

Along with the initiative, the Indian government took its own steps to help eradicate the disease, which is estimated to have killed 160,000 children in the country in 1988.

In Dec. 2014, the Ministry of Health and Family Welfare in India launched Mission Indradhanush, a project aiming to increase the percentage of children completely vaccinated from 65 to at least 90 percent.

In addition to tetanus, immunizations provided by Mission Indradhanush help protect children against tuberculosis, polio, measles, hepatitis B, diphtheria and pertussis, and are free due to India’s Universal Immunization Programme.

In an effort to have more births occur in medical facilities, the Indian government developed a program in which women are paid up to $21 if they go to a clinic or hospital to give birth.

Health workers are also paid to make sure women in labor go to a medical facility. Dubbed “lady health workers,” they are paid up to $9 per mother and receive full payment only if they visit each baby at home and administer TB shots.

Even with these incentives, some women still insist on giving birth at home, as doing so is a local tradition in India. To ensure sanitary conditions, the government will send these women kits containing antibacterial soap, a clean plastic sheet, and a sterile scalpel and plastic clamp to be used on the umbilical cord.

While India has eliminated MNT, the infection is still considered a public health problem in 22 out of the 59 countries originally identified by the U.N. initiative.

– Matt Wotus

Sources: National Health Portal of India, Quartz, The New York Times, UNICEF, WHO
Photo: Google Images

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One Nurse’s Fight Against Maternal and Infant Mortality

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“I believe it is relationships that save lives, that by working together with others we can serve so many more. No matter what you face in life, never give up. The ripple effect knows no boundaries.”

Those are the three main lessons that nurse Arlene Samen says she has learned over the course of many years. Samen, a maternal and fetal medical nurse practitioner for 33 years, decided to take her efforts to a broader level by founding the organization One Heart World Wide. The nonprofit organization works to encourage community wide support of mothers in remote and underserved areas around the world. The organization has been extremely effective in improving maternal and infant mortality rates because it works on improving healthcare from inside existing infrastructure.

Samen devoted her medical career to traveling around the world to improve birth outcomes for both mother and child. In particular, while in Tibet, she took to a special connection and pursued her interest—she researched local culture, traditions and conditions in communities in order to go back into the clinical setting and encourage adjustments based on those culture-specific findings, making certain changes. She created a “Network of Safety” model that was used far and wide, first throughout Tibet, then expanded into other regions of the world where conditions for pregnant woman were poor.

Samen’s path to where she is today, seeing the problem firsthand in one way and then setting out to improve it by looking at other avenues, is seemingly common. However, the tremendous success and praise that she has received for her efforts are not always so commonplace. Many intervention programs fall flat since they adhere strictly to intervening rather than combatting the problem where it is. One Heart World Wide does not just build fancy medical centers or go village-to-village delivering babies and then leaving—it works to implement sustainable system wide change that improves outcomes for mothers in the area for the long-term. By building clinics, training staff, and using culturally appropriate and tailor-made adjustments to a general model, each project that One Heart World Wide takes on is personal and comfortable for the communities, encouraging long-term sustained changes.

To date, Samen is credited with helping as many as 60,000 women directly, with many more yet to come. She has met with the Dalai Lama, led countless discussions and won many awards for her work. Samen, with One Heart World Wide, continues to change lives around the world and continues to serve as an exemplary example to public health initiatives.

– Emma Dowd

Sources: CNN, Forbes, Huffington Post, One Heart World Wide
Photo: Foot Soldiers of Change

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Improving the Mortality Rate for Newborns

Improving-Infant-Mortality-Rate
Each year, the Save the Children Fund releases the “State of the World’s Mothers Report,” detailing the worst and best places to raise children.

India has the highest newborn mortality rate in the world with 300,000 babies dying the same day they are born. This constitutes about a third of total newborn deaths around the world.

Globally, 40 million women give birth without professional help. In many cases, maternal care is far too expensive, sometimes amounting to the cost of a family’s food bill for an entire month.

Moreover, 50,000 Indian women die yearly from complications during childbirth. Most of the time, women give birth at home. Those who receive care in a public hospital rarely have better conditions, or even more favorable outcomes.

The report also revealed that the greatest gap between the rich and the poor exists in India. Children living in extreme poverty are three times more likely to die before the age of five in comparison with more economically advantaged families.

Save the Children’s Saving Newborn Lives program is supported by the Bill and Melina Gates Foundation. Started in 2000, Saving Newborn Lives is globally distinguished as the leading program advocating for newborn health.

Close to two million babies all over the world do not survive past their first month. Of the 18,000 children who die before reaching age five, 44 percent are newborns.

Universally, four out of five infant deaths occur because of the following three causes: premature birth, development of infections or difficulties arising during birth. Each cause is preventable and treatable. Saving Newborn Lives believes that half of these deaths would not occur if expectant mothers had access to free healthcare.

Saving Newborn Lives extends aid to newborns in the most destitute circumstances in order to ensure survival past the one-month mark. They have specific programs based in seven different countries including Afghanistan, Bolivia, Ethiopia, Nepal and Vietnam.

In collaboration with regional, national and global networks, Saving Newborn Lives institutes solutions to successfully improve infant health. The program promotes the availability of more medical assistance through regular checkups as well as emergency treatment. This impacts the progression toward higher quality clinics, and more knowledgeable and skillful health practitioners.

Pediatricians working for Saving Newborn Lives inform mothers and clinicians about critical practices that could secure the health of their newborns, such as how to breast-feed, administer antibiotics or recognize the onset of infection.

The fourth Millennium Development Goal mandated by the United Nations aims to lessen the 1990 child mortality rate by two-thirds by 2015. In the past decade, child mortality has been diminished from 12 million by roughly one-half. Thanks to the work of organizations like Save the Children, countries plagued with poverty have seen improvements that allow for the attainment of this goal.

Along with its work overseas, Saving Newborn Lives now runs an information portal through the Healthy Newborn Network, an online source for information about newborn health.

– Lillian Sickler

Sources: NPR, Save the Children Healthy Newborn Network
Photo: World Health Organization