India, with its vast and diverse population, faces numerous healthcare challenges, one of the most pressing being genetic disorders. These conditions are not just medical anomalies but represent significant social and economic burdens for families and the healthcare system at large.

As couples plan to start families, understanding the genetic makeup through carrier screening has emerged as a vital tool in informed reproductive decision-making. Understand what carrier screening is, its significance, the prevalence of genetic disorders in India, and the role of genetic counseling.

What is Carrier Screening?

Carrier screening is a genetic test designed to identify individuals who carry a recessive gene mutation linked to genetic disorders. Importantly, carriers do not typically exhibit symptoms of the condition. This characteristic is essential to understand because it allows individuals and couples to gain insights into their genetic risks even if they appear healthy.

Genetic disorders often occur when a child inherits two copies of a mutated gene, one from each parent. If both partners are carriers of the same recessive gene mutation, there exists a 25% chance that their child will inherit the disorder. This statistical risk accentuates the necessity of carrier screening for couples looking to make informed reproductive choices.

Prevalence of Genetic Disorders in India

India has a significant prevalence of various genetic disorders, including but not limited to:

Sickle Cell Anemia: A hereditary blood disorder characterized by abnormal hemoglobin, leading to severe health complications.

Thalassemia: A blood disorder involving lower levels of hemoglobin, which can lead to anemia and other serious health issues.

Cystic Fibrosis: A genetic condition that affects the respiratory and digestive systems, requiring ongoing medical care.

Phenylketonuria (PKU): A metabolic disorder that can lead to intellectual disabilities if not managed through dietary restrictions.

The widespread occurrence of these conditions in India highlights the critical role carrier screening can play in reducing their incidence. Through proper testing, couples can be better equipped with knowledge about their genetic risks, allowing for proactive healthcare decisions.

The Importance of Carrier Screening

Carrier screening is instrumental in providing couples with the essential information required to make informed reproductive choices. Here are several key benefits of undergoing carrier screening:

1. Informed Reproductive Choices: Knowing their carrier status empowers couples to consider various reproductive options. They may choose prenatal genetic testing, which allows for early detection of genetic disorders in the fetus, or preimplantation genetic diagnosis (PGD), which can help select embryos free from the genetic mutation during in vitro fertilization (IVF).

2. Early Medical Intervention: If a couple is identified as being at high risk of having a child with a genetic disorder, early detection through screening can facilitate timely medical interventions. For example:

3. Phenylketonuria (PKU): Early dietary management can prevent severe intellectual disabilities associated with this condition.

4. Sickle Cell Disease: Prompt treatment can help mitigate painful health crises and improve the quality of life.

5. Anxiety Reduction: Understanding one’s genetic status can significantly reduce anxiety for couples, providing clarity about their reproductive plans. The emotional burden of uncertainty regarding the risk of passing on a genetic disorder can be alleviated with accurate knowledge.

6. Cost-Effectiveness: Detecting genetic disorders early can potentially reduce the need for costly treatments later on. For instance, early management of cystic fibrosis can significantly decrease the likelihood of requiring lung transplants or other expensive medical interventions.

The Role of Genetic Counseling

Carrier screening is typically accompanied by genetic counseling, which plays a crucial role in helping couples navigate the complexities of genetic testing and its implications. Here’s what you can expect from genetic counseling:

1. Assessment of Family History: Before planning a pregnancy, couples are encouraged to consult a medical geneticist. They will assess family histories for any known genetic disorders, which can inform the necessity for specific carrier screening tests.

2. Recommendations for Testing: Based on the assessment, the geneticist can recommend appropriate tests. There are numerous reputable laboratories that offer carrier screening services, and genetic counselors can guide couples toward these resources.

3. Interpreting Results: Once the carrier screening test is conducted—typically requiring a blood or saliva sample—the results will be analyzed to determine the presence of any mutated genes. A medical geneticist will explain the findings, clarifying the couple’s carrier status and the implications for their reproductive choices.

4. Guidance on Reproductive Options: Depending on the results, genetic counselors can offer guidance on various reproductive options. This may include:

- Prenatal testing to monitor the fetus for genetic conditions.
- PGD for couples undergoing IVF, allowing them to select embryos free from the genetic mutation.
- Adoption as a viable alternative if the risk of passing on a genetic disorder is deemed high.

Significance of Screening

In a country as diverse and expansive as India, carrier screening serves as a crucial component of reproductive health and family planning. By identifying carriers of genetic disorders, couples can make informed decisions that not only impact their lives but also the well-being of future generations.

As awareness of genetic testing continues to grow, it is imperative for couples to understand their genetic risks, seek genetic counseling, and utilize carrier screening to navigate the complexities of family planning in a responsible and informed manner. In doing so, we can work towards reducing the incidence of genetic disorders and improving overall health outcomes in the population.

Leading public health experts and female doctors called for immediate policy interventions to prevent a hypertension epidemic in India on the occasion of World Heart Day, which was observed on September 29.Experts highlighted in a webinar hosted by the Family Planning Association of India thatDue to a variety of socio-cultural and environmental factors, hypertension disproportionately affects women in India.Economic factors impede their access to diagnostic services and timely treatment.

Among those who spoke at the event were Sanghamitra Ghosh (Secretary-General, IPHA, Kolkata)

Dr. Daksha Shah, Rathnamala Desai (President, FPA India) (Deputy Executive Health Officer, MCGM), Dr Kalpana Apte (Secretary-General, FPA India) and Dr Ajit Menon (Interventional Cardiologist,Mumbai).

They discussed the growing problem of hypertension, how to address it, why women did not seek treatment, what measures could be implemented to enable them to do so, and how to ensure treatment adherence.

According to the WHO, 63% of Indians suffer from noncommunicable diseases, with cardiovascular disease accounting for 27% of the total. In India, hypertension remains the leading cause of cardiac disease, despite a lack of awareness, inadequate primary care, and inadequate follow-up.

One in every five women in India (aged 15 to 49 years) has hypertension but is undiagnosed.Hypertension causes the blood vessel walls to thicken.

Dr. Sanghamitra Ghosh, Secretary-General of the IPHA in Kolkata, stated that the complications that have arisen. Impaired foetal growth, low birth weight, pre-eclampsia, and other hypertensive disorders cause morbidity and mortality in the mother, foetus, and newborn.

In younger and middle-aged women, hypertension may cause symptoms that are misdiagnosed as stress or menopause-related, resulting in neglect and becoming a risk factor for underlying diseases. Women may be more prone to developing hypertension after menopause due to a decrease in the levels of the cardio-protective hormone oestrogen.

“A preliminary review of data around the prevalence and care cascade of hypertension in India has revealed that women are at an increased risk of hypertension, especially beyond their reproductive years, as compared to men, and they are also sub-optimally treated,” said Dr Kalpana Apte, Secretary General, FPA India. Women are more likely than men to be affected by health disparities caused by sociocultural factors, as well as socioeconomic and political contexts.

Gender discrimination, socioeconomic burden, and physical mobility constraints frequently limit women’s access to optimal health care, she continued. This webinar provided an opportunity to interact with experts about data and programme gaps that can impede the effective implementation of gender-equitable hypertension control programmes in India.

Dr Rathnamala Desai, President of FPA India, elaborated on the subject, saying, “The key agenda of our advocacy efforts is to identify research gaps and design policy and programmes so that specific needs of women, during and beyond their reproductive years, are addressed.”

CVDs are more common in women (38%) than in men (31%), so it is critical to implement programmes that can control hypertension in women specifically, as the condition has a far-reaching impact on their health, well-being, and role in society.” “Hypertension affects nearly 24% of the world’s population and is a major risk factor for a variety of cardiovascular diseases and complications. Women are more likely than men to have hypertension, which often goes undiagnosed and untreated, putting them at a higher risk of complications.

There are many sex and gender-based disparities, as well as rural versus urban divides and inequalities, in the diagnosis and management of hypertension, particularly in women “Dr. Aijt Menon, a renowned interventional cardiologist from Mumbai, agreed. Dr. Daksha Shah, Deputy Executive Health Officer at MCGM, stated, “Given the country’s and city’s alarming NCDmortality statistics, we must prioritise budget and human resource allocation for NCDs, with a particular focus on women’s participation in the programme. Also, develop care models that involve the private sector and community organisations.

Noncommunicable diseases are the leading cause of death worldwide, accounting for 60% of all deaths, according to the WHO. Every year, a staggering 35 million people are killed by these silent killers, with 18 million of them being women. NCDs are the most serious threat to women’s health worldwide, wreaking havoc on women in developing countries during their most productive years. As a result, it is critical to prioritise hypertension treatment.

Controlling hypertension necessitates a strategic approach that begins with policy-level support for effective programme implementation, standardisation of treatment protocols, deployment of trained human resources and monitoring mechanisms across all tiers of the health system, inter-sectoral linkages and synergies between ongoing programmes, and improved people’s ability to prevent and self-manage chronic disease.

In this context, Prioritizing Advocacy for Control of Hypertension in India (PrACHI) is a collaboration between development partners FPA India and GHAI to reach out to key influencers for effective policy and programme implementation to reduce the prevalence of hypertension in India by 25% by 2025.

Advocacy efforts will focus on the effective implementation and convergence of national programmes and schemes that are either fully committed to hypertension prevention and management or include this strategic component as part of a larger programme. The critical asks will be for on-the-ground synergies between vertical programmes, larger allocations of resources (or resource pooling), and public-private partnerships for effective implementation and monitoring.

Family planning

DISCOVER HOW GENETIC CARRIER SCREENING CAN TRANSFORM FAMILY PLANNING IN INDIA

What is Carrier Screening?

Prevalence of Genetic Disorders in India

The Importance of Carrier Screening

The Role of Genetic Counseling

Significance of Screening

According to the Family Planning Association of India, there are growing gender disparities in hypertension awareness and diagnosis