Can Targeted Sequencing Transform the Future of Reproductive Health?

15 Mar 2023

With advancements in technology such as precision medicine, next-generation sequencing, and epigenetics, the healthcare industry is progressing into the future of personalized and predictive healthcare. 

Consciousness and awareness regarding the increasing incidence of recessive gene disorders and family planning principles have led to the effective implementation of next-generation sequencing (NGS).

Emerging next-generation sequencing technology, such as targeted sequencing, has made the early diagnosis and gene editing possible and more feasible, offering hope for treating reproductive health disorders.  

Targeted sequencing is an efficient, cost-effective technology that allows for the analysis of specific genes or regions of interest rather than the entire genome, which generates accurate results and saves time.

In this article, we will discuss the importance of targeted sequencing in the field of reproductive genetics and the treatment of reproductive disorders. 

Carrier Screening 

Carrier screening involves the analysis of genetic variants in samples such as blood, saliva, or tissue to determine the carrier status of specific conditions.
Carrier screening research makes use of physical attributes or known family history to identify carriers of certain illnesses which may help in making informed decisions can be made about future pregnancies and the production of healthy offspring. 

NGS has revolutionized carrier screening research by enabling rapid analysis of a vast array of genetic conditions.

NGS generates more comprehensive and precise data about the prevalence of rare and heritable conditions and their likelihood of being passed down through generations.
Carrier screening evaluation through NGS should be verified and substantiated clinically as it is still a technology in nascent stages that needs to be recognized by regulatory bodies before being implemented on a mass scale. 

Non-invasive Prenatal Testing (NIPT)

Non-invasive prenatal testing (NIPT) is a screening technique that determines the risk of a fetus would be born with certain genetic abnormalities.

NIPT involves the study and analysis of freely floating fragments of deoxyribonucleic acid (DNA) in the blood of pregnant women that are not restricted inside cells, also known as cell-free DNA (cfDNA).

Through analysis of this cfDNA in the mother’s blood mixed up with cells from the placenta, precise information about the DNA of the fetus can be accessed, which provides an opportunity for early diagnosis of genetic abnormalities without harming or invading the fetus.

For accuracy in NIPT, there should be a proper proportion of fetal cfDNA in the mother’s bloodstream coming from the placenta, also known as a fetal fraction. 

The fetal fraction in pregnant women should be above four percent, which is visible in the tenth week of pregnancy. Conducting a NIPT before the tenth week can show low fetal fractions, which leads to errors in sampling. 

In the final evaluation and clinical analysis, low fetal fractions also surface due to maternal obesity and fetal abnormality.

Targeted NIPT testing involves the following-:

•    the analysis of single nucleotide polymorphism (SNP)
•    rolling circle amplification 
•    microarray analysis

NIPT screening technique can help in the deletions of all autosomes and sex chromosome abnormalities and common chromosomal conditions such as Edward’s syndrome (trisomy 18), Down syndrome (trisomy 21), and Patau syndrome (trisomy 13). 

Preimplantation Genetic Diagnosis (PGD) 

Preimplantation genetic diagnosis (PGD) is a screening technique used along with in vitro fertilization (IVF) method to reduce the risk of passing inherited abnormal or dysfunctional genetic conditions to the fetus. 

PGD testing has been developed for couples whose potential offspring might be at risk of severe Mendelian disorders such as hemophilia and cystic fibrosis, structural chromosome abnormalities, or aneuploidy and mitochondrial disorders.

PGD should be incorporated in reproductive health care programs, as it is recognized as a crucial alternative to prenatal diagnosis which was used earlier to carry out tests directly on embryos. 

Integration of NGS in preimplantation genetic diagnosis delivers genetic insights that are used for embryo prioritization research. 

There are three types of PGD, as mentioned in the picture.

Newborn Screening 

Newborn screening programs are pivotal for public health infrastructures that detect potentially life-threatening conditions in newborn infants, leading to better health outcomes and reduced morbidity and mortality rates in affected children.

Newborn screening programs involve the use of a simple blood test called the heel stick, which is performed within the first few days after birth and involves obtaining a small sample of blood from the infant's heel. 

The blood is then tested for a range of disorders, such as phenylketonuria (PKU), congenital hypothyroidism, and sickle cell anemia. 

Targeted gene sequencing can be used in newborn screening as it allows high coverage and in-depth reading of small and medium output gene panels, small nucleotide variants (SNVs), and small indels along with copy number variants (CNVs) which overlap the gene panel of interest. 

Moreover, after the results of newborn screening tests, parents are notified in case any potentially life-threatening conditions are detected and also referred to a neonatologist for further evaluation and treatment.

 Genomic Sequencing Offers Hope in Infertility Treatment

A recent study conducted by researchers from Rutgers University in New Jersey has discovered that a woman's chances of experiencing a type of miscarriage called "egg aneuploidy" can be predicted by analyzing her genome.

The findings are published in a journal known as ‘Human Genetics’ in the edition of March 2022. 

The research can assess information on how effectively genetic variants in the mother's genome can predict the risk of infertility. 

The researchers worked with the Reproduction Medicine Associates of New Jersey, an IVF clinic, to examine genetic samples from patients using whole exome sequencing, which allows researchers to focus on the protein-coding sections of the human genome. 

The team then employed machine learning algorithms and statistical models to analyze patterns in the genetic data and create a specific risk score based on a woman's genome.

As a result, the scientists identified three genes – MCM5, FGGY, and DDX60L – which on mutation, are highly associated with a risk of producing eggs with aneuploidy. 
The results prove that genomic-targeted sequencing has the potential to provide patients and clinicians with better information on reproductive choices and fertility treatment procedures.

The lead researcher and professor at Rutgers University, Jinchuan Xing, said that the findings of the study could usher in a new era of genetic medicine, enabling women to visit fertility clinics armed with genomic information that provides a better understanding of how to approach infertility or IVF treatments. 

As such technology continues to improve and healthcare costs go down, the potential for targeted sequencing to transform reproductive health will continue to grow. 

According to BIS Research, the global targeted sequencing market was valued at $3.1 billion in 2022, which is projected to reach $10.9 billion by 2032, growing at a CAGR of 13.12% during the forecast period 2022-2032.


Targeted sequencing has the potential to revolutionize the field of reproductive health by providing a more accurate diagnosis, personalized treatment options, improved screening, and a greater understanding of the genetic factors that contribute to reproductive health. 

This will allow researchers to study large populations or entire species in a cost-effective and efficient manner, providing a more comprehensive picture of the genetic and genomic diversity within reproductive health.

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