Introduction:
While the idea of heredity dates back thousands of years, genetics as a study has only recently come into its own. Hereditary variables are explicitly included in the Darwinian theory of evolution by natural selection, and these elements at least partially mirror modern theories on the genetic basis of life. Mendel's rules of inheritance and other genetics-related discoveries set the groundwork for various fields specializing in modern genetics. Human genetics was not an exception when it emerged.
It looks like a bright future ahead of us, full of interesting and demanding opportunities. Over the past forty years, medical genetics has become a recognized field with laboratory and clinical diagnostics applications. A solid grasp of the fundamental concepts guiding "human genetics" forms the foundation of medical genetics. Clinical genetics is one of the many medical specialties that make up the current field of modern medicine. The characterization of the nearly complete sequence and organization of the human genome was completed fifty years after Watson and Crick (1953) discovered the double-helical structure of the Deoxyribonucleic Acid [DNA] molecule. This significant scientific breakthrough established the groundwork for "human genomics," a branch of the biological sciences that examines how gene variations, mutations, and regulatory areas affect human variation, health, and disease. Advances in the various fields of genomics of microorganisms, animals, and plants support this.
What Are the of Genomic Medicine?
Genetic abnormalities are associated with considerable morbidity and mortality during infancy, with the latter often having lasting implications. The leading causes of infant mortality in the United States are now reported to be genetic. Over the past several decades, obstetric care and neonatology advances have reduced Morbidity and Mortality from other perinatal conditions (example- surfactant administration for respiratory distress syndrome). Determining the underlying genetic diagnoses is the first step towards using precision medicine treatments to reduce M&M caused by genetic abnormalities. Due to limited access to GS, up to 25 % of severely ill newborns in NICUs may have an undetected genetic abnormality.
In general, a genetic abnormality may be hypothesized as the underlying cause of a severely unwell newborn with an unknown diagnosis, and the infant may be evaluated for Genetic screening (GS). Certain phenotypic criteria in the neonatal period to prioritize for GS may include neurologic, metabolic, or other severe organ system abnormalities of unknown etiology and multiple congenital anomalies (or a single major anomaly with accompanying syndromic features). These criteria are based on previous research as well as our own experience. For newborns (less than one year old) with one or more congenital abnormalities, the American College of Medical Genetics and Genomics has released a current evidence-based guideline that suggests GS.
What Are the Obstacles Genomic Medicine Faces While Implementing?
There are obstacles to fair access at several stages of the GM implementation process, and it is critical to recognize that racism-internalized, interpersonal, institutional, and structural- may present challenges at each stage. In contrast to genetic heritage, race and ethnicity are social constructs rather than biological ones; nevertheless, there exist racial and ethnic disparities in health care.
Neonatal care providers must first determine whether GS is a suitable test and suspect that a hospitalized infant has an underlying genetic disease. In community and/or rural NICUs, where infants from lower-income households, underserved areas, and/or racial and ethnic minority populations are frequently cared for, access to clinical geneticists or Genetic counselors (GCs) to help with this procedure may be limited for clinicians. Healthcare professionals without formal training in clinical genetics may be uninformed about genetics and genomics, struggle to recognize infants who may have genetic diseases, and/or harbor conflicting opinions regarding genetic testing. Furthermore, newborns of non-European ancestry may exhibit the "classic" dysmorphic characteristics that are associated with specific genetic illnesses because they are based on populations from Northern Europe.
GS must then be authorized and made available in therapeutic settings. While there are many settings in which newborn critical care is provided (rural and urban, community and academic), big academic referral centers are the primary locations for GS because they have the means and know-how to manage this procedure in an environmentally responsible manner. In community and/or rural NICUs without Genetic Screening (GS), infants may be sent to referral centers for extensive or no genetic testing or receive limited or no. This could result in further financial strain on families and increased healthcare expenditures. In NICUs where GS is offered, institutional committee and/or insurance permission is frequently needed before testing may begin.
How Is the Usefulness of Genomic Medicine Measured in Critically Ill Infants?
Without question, genomics research has great promise for enhancing human health. Recently, the World Health Organisation [WHO] issued several recommendations about the use of genomics in global health and its scope (WHO 2002). It is recognized that the data produced by genomics will be extremely helpful in preventing, diagnosing, and treating genetic and infectious diseases and other common medical conditions like diabetes, cancer, heart disease, and mental illnesses (Cardon and Bell 2001). When taken as a whole, these represent a significant health burden, as seen by death and chronic illness. Furthermore, evidence links several infectious diseases to genomic alterations that show up as enhanced vulnerability, clinical severity, favorable or unfavorable response to antimicrobial therapy, and ability to confer protection. Genomic variation may impact the protective efficacy of a microbial vaccination.
As of right now, the human genome has been fully sequenced. Every individual bears a unique sequence. Scattered across the entire genome are sequence polymorphisms representing the variation among all humans. In addition to playing a significant role in treatment efficacy and side effects, genetic diversity across individuals likely determines illness susceptibility and protection in conjunction with environmental factors.
Conclusion:
In clinical practice, whole exome and genome sequencing, along with related care, is becoming more and more accessible due to advancements in cost and efficiency in genetic sequencing; because genetic disease affects critically ill infants at high rates, using genomic medicine in this population is seen as a breakthrough application. Additionally, because genomic medicine is useful in improving outcomes for these infants, its wider integration into medical practice may be prompted by this finding. By streamlining the diagnosis process, enhancing therapies, giving families answers and future knowledge, and, in cases when the prognosis is dire, directing attention towards palliative care, genomic medicine has the potential to transform clinical care completely.
