**3. Conclusion and a future outlook**

Newborn screening is used just after birth to identify genetic disorders that can be treated early in life. Early detection, diagnosis, and intervention can prevent death or disability and enable children to reach their full potential. Each year, millions of babies in the US are routinely screened, using molecular tests performed on a few drops of blood obtained from their heels, for certain genetic, endocrine, and metabolic disorders, and are also tested for hearing loss prior to discharge from a hospital or birthing center. All states currently test infants for phenylketonuria (a genetic disorder that, if left untreated, causes intellectual disability) and

The expansion of the screening panel to approximately 30 heritable metabolic conditions occurred from 1997 to 2007 with the introduction of tandem mass spectrometry (MS/MS), a technology that detects multiple disease biomarkers simultaneously in a single specimen. This technique employs the screening of blood spots for inborn errors of metabolism by electrospray MS/MS with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles. More recently, other markers, based on nucleic acid analysis of the newborn genetic makeup,[48] such as sickle cell disease, alpha-1-antitrypsin deficiency, and Factor V

Cervical cancer is the 7th most common cause of cancer death in Europe for females, and the 15th most common cause of cancer death overall. According to currently available US Centers for Disease Control (CDC) Fast Stats [49] cervical cancer mortality in the US in 2010 was ~4,000

The global statistics provided by Cancer Research UK are far more saddening. Worldwide, there were more than ~275,000 deaths from cervical cancer in 2010 that accounted for ~10% of

The Papanicolaou test—aka Pap test, Pap smear, cervical smear, or smear test—was histori‐ cally the method of cervical screening used to detect potentially precancerous and cancerous cells in the endocervical canal of the female reproductive system. Atypical findings were followed with more sensitive diagnostic procedures, and, if warranted, interventions that

In March 2014, the FDA's Medical Devices Advisory Committee Microbiology Panel voted unanimously to approve the cobas® 4800 HPV Test (Roche Molecular Systems) and recom‐ mended that this real-time PCR HPV test replace the Pap smear as the first-line standard of

Another wide-ranging use of molecular tests using PCR can be found in the disease area of colorectal cancers where tumor nucleic acids are analyzed for the presence of mutations or other markers. Historically, all colorectal cancers (CRCs) have been considered a single disease entity sharing the same cause, clinical characteristics, and treatment outcomes. However, through analysis of precursor lesions and hereditary forms of the disease, it has now become clear that CRC is a complex and heterogeneous disorder. Although microsatellite instability (MSI) testing has been used for more than a decade for identifying patients with Lynch

care for cancer screening, another use of nucleic acid testing in molecular diagnostics.

congenital hypothyroidism (a disorder of the thyroid gland).

Leiden, have been added.

or ~2.5 deaths per 100,000 females.

84 Nucleic Acids - From Basic Aspects to Laboratory Tools

aimed to prevent progression to cervical cancer.

*2.2.3.3. Cancer markers*

female cancer deaths.

The introduction of nucleic acid testing into clinical laboratories has vastly improved detection of infections. Chronic viral infection can be treated with tests at hand that are adequate to inform the physician if the patient is responding, developing resistance, or being cured. The safety of the blood supply was dramatically improved on a global basis with the introduction of nucleic acid testing for blood-borne pathogens. Expectant parents can be informed of the genetic risks of a pregnancy and the inherited diseases for which a developing fetus or a newborn may be treated. Finally, today, patients diagnosed with cancer can experience a much more tailored approach to therapy, maximizing success and efficiency and minimizing costs to both themselves and the healthcare system.

The past decade has seen the number of commercial molecular tests used in practice increase fivefold. In 2013, 60% of the molecular diagnostics tests were sold by five companies: Roche, Becton Dickenson, Abbott, Hologic, and Qiagen.[56] However, in recent years the number of companies developing molecular tests has grown remarkably. Roughly, 350 companies are now active in development of molecular diagnostics,[56] highlighting the utility and impor‐ tance of nucleic acid testing in healthcare today.

As molecular testing becomes more widely available and applicable to healthcare globally, it is not surprising that the next-wave nucleic acid testing will penetrate the markets in emerging and developing countries. For example, ARV regimens are becoming more widely available, including in sub-Saharan Africa to manage the large numbers of HIV-infected individuals, and state-of-the-art viral load testing will need to accompany the expansion of these regimens. It is a challenge to the manufacturers of nucleic acid tests to adapt technologies and platforms to resource-limited settings. The future of molecular testing may involve reduction in time to test result as well as reduction in assay and instrument complexity and number and training expertise of staff required to perform such assays.
