Genetic and Diagnostic Screening Essay 2022
Added on 2022-09-27
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Running head: ESSAY 1
ESSAY 1
Name of the Student:
Name of the University:
Author’s Note:
ESSAY 1
Name of the Student:
Name of the University:
Author’s Note:
ESSAY 11
Genetic and diagnostic screening: Past, current and controversial issues
A screening is a test procedure that is performed for the determination of a health
disease or problem when the individual does not exhibit any signs and symptoms. The
purpose of the screening is to early detection of a disorder and help in the reduction of the
risk associated with it or in the detection of a condition as early as possible in order to treat it
in an effective manner (1). The use of genetic and diagnostic screening have been conducted
over the year to help people in extending their lifespan and improve the quality of care
offered. Each of the different diseases has a different genetic and diagnostic screening
process that had been developed years ago. The screening is done when at least four
conditions were met that included availability of the acceptable form of test, discovery of
treatment, a well-established basis of screening and comprehensive access to healthcare (2).
This is an old quest in the field of medicine; however, new development is continuously
being developed due to the discovery of new disorders. The aim of the essay is to critically
discuss the past, present and controversies associated with genetic and diagnostic screening.
Diagnostic screening is used for testing the presence or absence of a disease on the
basis of which the treatment decisions in a screen positive or symptomatic individual is made.
It is one of the most aspects of medical science because by conducted a diagnostic test, the
disease cannot be confirmed. The test method can be invasive, expensive and justifiable in
nature (3). This is usually conducted among high specificity and widely used because of its
precise and accurate. Therefore, it offers a definite diagnosis of a disorder. One of the most
common diagnostic testings is newborn bloodspot screening that is done where a blood
sample of a newborn baby is collected using a heel-prick stab. As stated, the screening is
done usually 5 to 8 days after birth in the UK, whereas other countries regularly conduct it
earlier. There are 25000 to 100000 screening laboratories in the countries and the limited
number of laboratories that serve a define population help in reducing cost, facilitating audit,
Genetic and diagnostic screening: Past, current and controversial issues
A screening is a test procedure that is performed for the determination of a health
disease or problem when the individual does not exhibit any signs and symptoms. The
purpose of the screening is to early detection of a disorder and help in the reduction of the
risk associated with it or in the detection of a condition as early as possible in order to treat it
in an effective manner (1). The use of genetic and diagnostic screening have been conducted
over the year to help people in extending their lifespan and improve the quality of care
offered. Each of the different diseases has a different genetic and diagnostic screening
process that had been developed years ago. The screening is done when at least four
conditions were met that included availability of the acceptable form of test, discovery of
treatment, a well-established basis of screening and comprehensive access to healthcare (2).
This is an old quest in the field of medicine; however, new development is continuously
being developed due to the discovery of new disorders. The aim of the essay is to critically
discuss the past, present and controversies associated with genetic and diagnostic screening.
Diagnostic screening is used for testing the presence or absence of a disease on the
basis of which the treatment decisions in a screen positive or symptomatic individual is made.
It is one of the most aspects of medical science because by conducted a diagnostic test, the
disease cannot be confirmed. The test method can be invasive, expensive and justifiable in
nature (3). This is usually conducted among high specificity and widely used because of its
precise and accurate. Therefore, it offers a definite diagnosis of a disorder. One of the most
common diagnostic testings is newborn bloodspot screening that is done where a blood
sample of a newborn baby is collected using a heel-prick stab. As stated, the screening is
done usually 5 to 8 days after birth in the UK, whereas other countries regularly conduct it
earlier. There are 25000 to 100000 screening laboratories in the countries and the limited
number of laboratories that serve a define population help in reducing cost, facilitating audit,
ESSAY 12
focus on information and experience and thus, develop expertise (4). The various standard is
being adopted for conducting blood screening among newborns that help in addressing the
issues related to it as well as the specific screening of the baby for various inherited disorders.
Phenylketonuria is an autosomal recessive disorder where there is a reduction in the
phenylalanine hydroxylase activity occur due to mutation in 400 different locations. The
prevalence of the disease in the UK is 1 in 10000 births and carrier has a ratio of 1:70 (5).
The use of blood screening can be used there a level of >240 umol/L of phenylalanine
indicate a positive screen. In all the laboratories, the use of Tandem MS was utilised for
measurement of the concentration of phenylalanine.
Figure 1: Frequency of some inborn disorders based on newborn screening
Source: (6)
The first screening test that was used for cancer was the Pap test. The test was
developed by George Papanicolaou that was initially used as a research method for
focus on information and experience and thus, develop expertise (4). The various standard is
being adopted for conducting blood screening among newborns that help in addressing the
issues related to it as well as the specific screening of the baby for various inherited disorders.
Phenylketonuria is an autosomal recessive disorder where there is a reduction in the
phenylalanine hydroxylase activity occur due to mutation in 400 different locations. The
prevalence of the disease in the UK is 1 in 10000 births and carrier has a ratio of 1:70 (5).
The use of blood screening can be used there a level of >240 umol/L of phenylalanine
indicate a positive screen. In all the laboratories, the use of Tandem MS was utilised for
measurement of the concentration of phenylalanine.
Figure 1: Frequency of some inborn disorders based on newborn screening
Source: (6)
The first screening test that was used for cancer was the Pap test. The test was
developed by George Papanicolaou that was initially used as a research method for
ESSAY 13
understanding the menstrual cycle. After its discovery, Papanicolaou recognised that it has
potential in assessing cervical cancer identification and after many years, it was being
accepted. After the wide-scale recognition of diagnostic testing in the world, it has been used
by healthcare professionals. There is a 4% annual growth foot general diagnostic and 15% in
the molecular diagnosis in the market. Furthermore, it was found that the market of molecular
diagnostic had reached $4.8 billion in 2011 and had been expected to reach $9.3 billion by
2020 (7).
Figure 2: Market of molecular diagnostic
Source: (8)
With the growth in the market, new and developed screening methods were
introduced. This includes Whole Exome sequencing that was found to be a definite diagnosis
process in a child who had intractable inflammatory bowel disease. This was an X-linked
inhibitor of apoptosis deficiency that was treated with an allogeneic hematopoietic progenitor
cell transplant. After forty-two days of the transplant, the child was able to eat and drink and
thus, there was no recurrence of gastrointestinal disease. Miniaturised sensing systems,
MALDI-TOF that helped in the identification of pathogens in the clinical laboratory and
understanding the menstrual cycle. After its discovery, Papanicolaou recognised that it has
potential in assessing cervical cancer identification and after many years, it was being
accepted. After the wide-scale recognition of diagnostic testing in the world, it has been used
by healthcare professionals. There is a 4% annual growth foot general diagnostic and 15% in
the molecular diagnosis in the market. Furthermore, it was found that the market of molecular
diagnostic had reached $4.8 billion in 2011 and had been expected to reach $9.3 billion by
2020 (7).
Figure 2: Market of molecular diagnostic
Source: (8)
With the growth in the market, new and developed screening methods were
introduced. This includes Whole Exome sequencing that was found to be a definite diagnosis
process in a child who had intractable inflammatory bowel disease. This was an X-linked
inhibitor of apoptosis deficiency that was treated with an allogeneic hematopoietic progenitor
cell transplant. After forty-two days of the transplant, the child was able to eat and drink and
thus, there was no recurrence of gastrointestinal disease. Miniaturised sensing systems,
MALDI-TOF that helped in the identification of pathogens in the clinical laboratory and
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