August 20, 2022

Innovations in Genetic Testing

Genetic Testing Innovations

Genetic testing is quickly becoming a cornerstone of healthcare, with new medical technologies and innovations enhancing how scientists work with genetics. Gene therapy, simplified genetic tests, and analysis of fully sequenced genomes are just some of the genetic testing innovations improving healthcare today and in the future.

The global genetic testing market hasrisen over the past few years. This rise is fueled by the increasing prevalence of genetic disorders and growing awareness about the benefits of genetic testing. In fact, the global genetic testing market will likely reach 22.834 billion USD in 2024, registering 11.50 percent CAGR throughout the assessment period (2019-2024), according to Market Research Future.

Genetic testing involves a set of laboratory tests that study the patient’s genetic makeup, and identify any gene mutations or alterations in the patient’s DNA that could potentially lead to the development of genetic disorders. Healthcare professionals can use genetic tests to confirm or rule out a suspected genetic disorder. Genetic testing can also help determine the probability that an individual will develop a genetic disorder or pass one down to the next generation.

Types of Genetic Testing and Innovations

As of August 2017, there were about 10,000 unique genetic test types, and approximately 75,000 genetic tests on the market including direct-to-consumer (DTC) genetic tests like 23andMe – more are under development every year. The general types of genetic tests include:

Newborn testing – used just after birth to detect genetic disorders early, when they are easiest to treat

Diagnostic testing – identifies or rules out a specific genetic condition

Carrier testing – identifies people who carry one copy of a gene mutation that, when coupled with another gene with the same mutation, causes a genetic disorder; this test can help couples determine their risk for having a child with a genetic disorder

Prenatal testing – offered during pregnancy if there is a chance that the baby will have a genetic disorder, prenatal testing detects changes in a fetus’s genes prior to birth

Pre-implantation testing – used to detect changes in embryos created through in-vitro fertilization or other assisted reproductive technology to reduce the risk of having a child with a specific genetic disorder

Predictive and presymptomatic testing – detect gene mutations associated with conditions that develop after birth or even later in life; helpful for people whose family member has a genetic condition, but who have no signs or symptoms of the condition at the time of testing

Forensic testing – uses DNA sequences to identify someone for legal purposes, such as identifying victims of a crime or catastrophe, rule out or implicate a suspect in a crime, or to establish paternity or other biological relationship

Genetic Testing Delivery Systems

Innovations in genetic testing involve new delivery systems, finding new genetic variants, and finding new uses for genetic therapies. Researchers from Fred Hutchinson Cancer Research Center recently started using gold nanoparticles as a scalable delivery vehicle for their CRISPR systems, for example, instead of the “old fashioned” approach of using electric shock or viral vectors to deliver genetic editing tools to DNA.

Another group of researchers analyzed coding genes from nearly 46,000 people to identify four genes that contained rare genetic deviations linked to type 2 diabetes. Pharmaceutical companies could use these genes and the proteins they encode as targets for new diabetes medications and treatments.

Doctors in the United States have begun using CRISPR gene-editing therapy to treat cancer patients for the first time. The University of Pennsylvania is following the first two patients in the country to undergo the new therapy – one with sarcoma and one with multiple myeloma, whose cancers did not respond to conventional treatment.

Genetic testing could even help scientists understand COVID-19; they currently use genetic testing known as RNA or PCR tests, to detect the disease.

genetic testing and innovations clinical trials

The tsunami of gene therapy clinical trials underway right now will create a flood of data, particularly in oncology. Oncology is an area that currently represents a quarter of Phase I and Phase II trials. Much of the push to expand genetic testing will come from the consumers themselves. Patients are currently pushing to expand genetic testing beyond its current confines of rare diseases to cover common conditions, such as Parkinson’s disease. In cases in which insurance does not cover the costs of these tests, patients may seek to enroll in clinical trials. When genetic testing is not affordable or accessible, consumers will turn to at-home genetic testing.

FRANK MAGLIOCHETTI

Frank Magliochetti owes his professional success to his expertise in two areas: medicine and finance. After obtaining a BS in pharmacy from Northeastern University, he stayed on to enroll in the Masters of Toxicology program. He later specialized in corporate finance, receiving an MBA from The Sawyer School of Business at Suffolk University. His educational background includes completion of the Advanced Management Program at Harvard Business School and the General Management Program at Stanford Business School. Frank Magliochetti has held senior positions at Baxter International, Kontron Instruments, Haemonetics Corporation, and Sandoz. Since 2000, he has been a managing partner at Parcae Capital, where he focuses on financial restructuring and interim management services for companies in the healthcare, media, and alternative energy industries. Last year, he was appointed chairman of the board at Grace Health Technology, a company providing an enterprise solution for the laboratory environment. Frank is also CEO of ClickStream, ClickStream’s business operations are focused on the development and implementation of WinQuik™, a free to play synchronized mobile app and digital gaming platform. The platform is designed to enable WinQuik™ users to have fun, interact and compete against each other in order to win real money and prizes. Twitter at @ClickstreamC and @WinQuikApp.

Genetic Industry

Frank was appointed Chairman and Chief Executive Officer at Designer Genomics International, Inc. The Company has accumulated a growing body of evidence that highlights a link between alterations in the immune and inflammatory systems and the development of chronic human disease. The Company is visionary and has established itself as a leader in the field of inflammatory and immune genetic DNA and RNA biomarkers that play a causative role in debilitating conditions, such as atherosclerosis/heart disease, diabetes, arthritis, inflammatory bowel disease, post-traumatic stress disorders (PTSD) and cancer.
A proprietary state-of-the art data mining bioinformatics program, called ‘cluster analysis’ will be used to measure disease development susceptibility with potential for earlier diagnosis and intervention. The company is developing a healthcare program based on its proprietary genetic panels that will allow people to be their own healthcare advocate and take an active role in their health status as well as longevity.

Frank Magliochetti News is developing Genetic Innovation News.com the site is devoted to genetic innovations; we encourage contributors – the site wants to broadcast your news, discoveries,and innovations.

Mr. Frank Magliochetti MBA
Managing Partner
Parcae Capital

www.parcaecapitalcorp.com
www.frankmagliochetti.com

SOURCES:

https://www.marketresearchfuture.com/reports/genetic-testing-market-2009

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5987210

https://www.genome.gov/dna-day/15-ways/direct-to-consumer-genomic-testing

https://www.23andme.com/

https://ghr.nlm.nih.gov/primer/testing/uses

https://www.nature.com/articles/s41563-019-0385-5

https://www.nature.com/articles/s41586-019-1231-2

https://www.docwirenews.com/docwire-pick/first-u-s-cancer-patients-treated-with-crispr-gene-editing-therapy/

https://www.the-scientist.com/news-opinion/sars-cov-2-spike-protein-shares-sequence-with-a-human-protein-67596

https://asm.org/Articles/2020/April/COVID-19-Testing-FAQs

https://www.mckinsey.com/industries/pharmaceuticals-and-medical-products/our-insights/gene-therapy-coming-of-age-opportunities-and-challenges-to-getting-ahead

Hereditary Cancer Testing: Prostate Cancer

Prostate cancer is the second leading cause of cancer death in men in the United States, behind only lung cancer, according to the American Cancer Society. Cancer of the prostate is a serious disease, but most men diagnosed with prostate cancer do not die from it – early detection and personalized treatment saves lives. Doctors currently use tests, such as prostate-specific antigen (PSA), to detect and diagnose prostate cancer, but hereditary cancer screening may hold the key to earlier diagnosis and more effective treatment.

Hereditary Cancer Testing

Some people inherit a genetic mutation from their mother or father. This damaged gene puts them at greater risk for developing certain forms of cancer, including prostate cancer. In fact, hereditary prostate cancer accounts for 5 to 10 percent of all prostate cancer. Having a brother or father with prostate cancer more than doubles a man’s risk for having the disease. Hereditary cancer testing helps men understand their inherited risk of developing cancer within their lifetime. This type of testing can also help reduce or eliminate unnecessary prostate biopsies completely in men suspected of having prostate cancer.

Hereditary cancer testing works by looking for specific changes, or mutations, in specific genes, chromosomes, and proteins. These mutations can change the way the gene works; in some cases, gene mutations can cause the uncontrolled growth of abnormal cells that characterize cancer.

Most commonly, hereditary cancer testing for prostate cancer looks for mutations in BRCA2 and BRCA1 genes, and in other genes associated with prostate cancer.

Hereditary Cancer Testing is Gaining Traction as a Way to Provide Earlier Diagnosis and More Effective Treatment for Prostate Cancer

While hereditary cancer testing can help inform treatment and management approaches to prostate cancer, genetic testing of men for prostate cancer is relatively uncommon, largely because of inconsistent guidelines covering the testing and challenges in implementing genetic counseling services. There is a lot of confusion regarding when men should undergo hereditary testing for prostate cancer, the genes that should be tested, understanding the impact genetic results will have on personalized treatment programs, and the effect hereditary testing for prostate cancer can have for men and their families.

Healthcare professionals and genetic testing companies are working hard to change that, though, and are making advances to bring hereditary cancer testing for prostate cancer to the men who need it. A group of healthcare professionals recently published key recommendations in Journal of Clinical Oncology, for example. The group, made of oncology, urology, genetic counseling, primary care, and Veterans Affairs experts along with patient stakeholders, strongly endorsed genetic testing in men with metastatic (spreading) prostate cancer to help guide treatment and to determine the patient’s eligibility in clinical trials. They also recommended this type of testing to screen men whose family history suggests an increased risk of prostate cancer and other types of cancer.  

 The researchers also addressed the impact hereditary cancer testing can have on the treatment of prostate cancer in its early stages. The group recommended BRCA-2 testing for screening and for helping men and their doctors make decisions about treating early-stage prostate cancer.

The researchers also reviewed cancer screening strategies, such as the age men should begin screening for prostate cancer and which genes to test. The group recommended testing BRCA2 and another gene, HOXB13, for screening and early detection. Furthermore, the panel recommended that BRCA2 carriers begin PSA testing early; doctors may recommend early screenings beginning at age 40 or about 10 years prior to the youngest prostate cancer diagnosis in the patient’s family.

Because hereditary testing may uncover inherited cancer risk, the researchers also discussed genetic testing for both male and female relatives of those men who test positive for genetic mutations, depending on the patient’s family history of cancer and other factors.

Hereditary cancer testing for prostate cancer is growing increasingly common because of the important role it plays in the screening, diagnosis and treatment of prostate cancer.

To View Frank Magliochetti Press Releases Please CLICK HERE

Frank Magliochetti owes his professional success to his expertise in two areas: medicine and finance. After obtaining a BS in pharmacy from Northeastern University, he stayed on to enroll in the Masters of Toxicology program. He later specialized in corporate finance, receiving an MBA from The Sawyer School of Business at Suffolk University. His educational background includes completion of the Advanced Management Program at Harvard Business School and the General Management Program at Stanford Business School. Frank Magliochetti has held senior positions at Baxter International, Kontron Instruments, Haemonetics Corporation, and Sandoz. Since 2000, he has been a managing partner at Parcae Capital, where he focuses on financial restructuring and interim management services for companies in the healthcare, media, and alternative energy industries. Last year, he was appointed chairman of the board at Grace Health Technology, a company providing an enterprise solution for the laboratory environment. Most recently; Frank was appointed Chairman and Chief Executive Officer at Designer Genomics International, Inc. The Company has accumulated a growing body of evidence that highlights a link between alterations in the immune and inflammatory systems and the development of chronic human disease. The Company is visionary and has established itself as a leader in the field of inflammatory and immune genetic DNA and RNA biomarkers that play a causative role in debilitating conditions, such as atherosclerosis/heart disease, diabetes, arthritis, inflammatory bowel disease, post-traumatic stress disorders (PTSD) and cancer.
A proprietary state-of-the art data mining bioinformatics program, called ‘cluster analysis’ will be used to measure disease development susceptibility with potential for earlier diagnosis and intervention. The company is developing a healthcare program based on its proprietary genetic panels that will allow people to be their own healthcare advocate and take an active role in their health status as well as longevity.

This image has an empty alt attribute; its file name is GRACE-HEALTH-TECHNOLOGY_Frank-MAgliochetti.jpg

Mr. Frank Magliochetti MBA
Managing Partner
Parcae Capital

www.parcaecapitalcorp.com
www.frankmagliochetti.com

Sources

https://www.cancer.org/cancer/prostate-cancer/about/key-statistics.html#:~:text=Deaths%20from%20prostate%20cancer,do%20not%20die%20from%20it.

https://www.mskcc.org/cancer-care/risk-assessment-screening/hereditary-genetics/genetic-counseling/inherited-risk-prostate

https://www.cancer.org/cancer/prostate-cancer/causes-risks-prevention/risk-factors.html

https://ascopubs.org/doi/10.1200/JCO.20.00046

Pharmacogenomic Testing & Health Care Costs

Pharmacogenomic Testing: Could it Reduce Health Care Cost?

A relatively new type of drug testing could reduce health care costs. This type of testing is known as pharmacogenomic testing. It looks at how the genes a person inherits affects how medications works in his or her body.

Many things can affect how drugs work in the body. Someone’s size can be a factor, for example, as a large person needs more of a drug than does a small person. A person’s diet can also affect how well his or her body absorbs and uses medications.

Genes can also affect how a person’s body responds to drugs. Differences in genetic makeup between people influences what their bodies do to a drug and what a drug does to their bodies. A person’s genetic makeup may cause slow metabolism of medications, for example, and this can cause the drugs to accumulate to toxic levels in the body. Other people metabolize drugs so quickly that drug levels never get high enough to provide a therapeutic effect.

About Pharmacogenomics

In pharmacogenomics, scientists study the genetic differences that affect the response to drugs. The word “pharmacogenomics” is a combination of the word’s pharmacology and genomics; pharmacology is the study of the uses and effects of medications, while genomics is the study of genes and their functions. The aim of pharmacogenomics is to develop safe, effective medications and doses tailored to an individual’s genetic makeup.

Pharmacogenomic testing helps researchers get a better understanding of the relationship between genetics and drug response. This understanding ultimately leads to treatments that work better and cost less.

Most of the medications currently available are “one size fits all,” but these drugs do not work the same way for everybody due to genetic differences. These inherited differences can make it difficult to predict who will benefit from a drug, who will not respond at all, and who will suffer negative side effects. Incorrect predictions can lead to prescribing drugs that do not work, work poorly, or worst of all, cause adverse side effects.

The Food and Drug Administration (FDA) tracks adverse drug reactions and issues “black box warnings” for medications that have the potential for severe side effects associated with genetic predispositions and other causes. These warnings, which apply to more than 200 drugs, help doctors choose the right medications. In some cases, the black box warnings contain genomic information that alerts doctors to the potential risk of adverse reactions and provides dosing instructions according to pharmacogenomic testing results.

Pharmacogenomic testing can reduce health care costs by helping doctors prescribe medications that those patients who are genetically predisposed to benefiting from the drug. This testing can also reduces the risk of adverse events in patients with a certain genetic predisposition.

Negative side effects, also known as adverse drug reactions or adverse drug events, are a significant cause of hospitalizations and death. Adverse drug reactions lead to approximately 1.3 million emergency department (ED) visits and 350,000 hospitalizations every year, according to the Centers for Disease Control and Prevention (CDC). The FDA says that adverse drug events may be the fourth leading cause of death in the United States, causing more than 106,000 deaths annually.

Adverse drug reactions are dangerous, but they are also costly. Adverse drug events cost the nation about $3.5 billion in excess medical costs every year. These drug reactions affect about 2 million hospitalizations each year and prolong these hospital stays by 1.7 to 4.6 days, which significantly adds to the cost of hospital care. Outside the hospital, adverse drug reactions result in more than 3.5 million visits to doctor offices, approximately a million emergency department visits and around 125,000 admissions to the hospital. More than 40 percent of the costs related to adverse drug reactions occurring outside the hospital may be preventable.

About Pharmacogenomic Testing and its Benefits

Researchers are using information from the Human Genome Project to investigate how genetics affects the body’s response to medications. The results help researchers to predict whether a drug will work effectively for a particular person, and to help prevent adverse drug events.

The test requires a small blood or saliva sample. Laboratory technicians perform tests that look for changes or variants in one or more genes, which can affect your body’s response to certain medications.

Pharmacogenomic testing evaluates the genetic factors that affect how your body metabolizes medications. The information gained from the test helps your doctor determine if a particular medication is right for you, calculate the correct dosage to adjust for your metabolism, and to help predict whether you could experience serious side effects from the drug. It can also save money.

Medical and finance expert Frank Magliochetti explains;


Healthcare spending in the United States reached $3.5 trillion in 2017, rising by 3.9% year-on-year and accounting for 17.9% of gross domestic product (GDP), according to data from the Centers for Medicare and Medicaid Services (CMS). Independent federal actuaries estimate that the amount climbed to $3.65 trillion in 2018, and the Organization for Economic Co-Operation and Development (OECD) ranks the United States as the country with the highest health expenditure per capita. According to CMS projections, US spending will continue to grow at an average rate of 5.5% annually through 2026, when it is expected to reach $5.7 trillion and account for 19.7% of GDP. These massive and steadily rising costs are a source of concern for the government, which is constantly exploring means of reining in healthcare expenses, including through preventive measures and investment in research projects. Among the most promising new developments is pharmacogenomic testing, which involves studying the impact of people’s genetic makeup on their response to drugs so that effective and efficient treatment regimens can be devised

Frank Magliochetti owes his professional success to his expertise in two areas: medicine and finance. After obtaining a BS in pharmacy from Northeastern University, he stayed on to enroll in the Masters of Toxicology program. He later specialized in corporate finance, receiving an MBA from The Sawyer School of Business at Suffolk University. His educational background includes completion of the Advanced Management Program at Harvard Business School and the General Management Program at Stanford Business School. Frank Magliochetti has held senior positions at Baxter International, Kontron Instruments, Haemonetics Corporation, and Sandoz. Since 2000, he has been a managing partner at Parcae Capital, where he focuses on financial restructuring and interim management services for companies in the healthcare, media, and alternative energy industries. Earlier this year, he was appointed chairman of the board at Grace Health Technology, a company providing an enterprise solution for the laboratory environment.

Mr. Frank Magliochetti MBA
Managing Partner
Parcae Capital

www.parcaecapitalcorp.com
www.frankmagliochetti.com

The Benefits of Genetic Cancer Screening

Genetic Cancer Screening Benefits for You and for Your Family

Genetic cancer screening can be one of the greatest gifts you can give to yourself and to your family.

Cancer seems to “run in families.” Sometimes this is because families share an environment or lifestyle, such as tobacco use, known to increase the risk of cancer. At other times, mutations in the genes passed from one generation to the next increases a person’s cancer risk. Researchers think that genetic mutations play a role in approximately 5 to 10 percent of all cancers, according to the National Cancer Institute.

Researchers have not identified genetic causes for every type of cancer but they have discovered several gene changes, or mutations, which can pass from a parent to child. These mutations can increase a person’s risk of developing certain types of cancer. Scientists refer to these genetic changes as “hereditary cancer syndromes.”

Types of Hereditary Cancer Syndromes

Hereditary Breast & Ovarian Cancer Syndrome (HBOC)

Medical scientists think that about 5 to 10 percent of breast cancer cases are hereditary, according to the American Cancer Society. Hereditary breast and ovarian cancer syndrome (HBOC) is the most common type of inherited breast cancer. HBOC is the result of mutations in two genes, BRCA1 and BRCA2. A woman who inherits mutations of these genes has a higher risk of developing breast and ovarian cancer during her lifetime than does a woman who does not carry that mutation.

Mutations in BRCA genes can also affect men. A man with an inherited BRCA gene mutation has a higher change of developing breast and prostate cancer at some point in his life. Furthermore, some families with a mutation in the BRCA gene have a higher risk of developing pancreatic cancercolon cancer and the skin cancer known as melanoma. Mutations in BRCA genes can greatly increase the risk of lung cancer – smokers have about a 13 percent lifetime chance of lung cancer, according to Cancer Discovery, but that risk nearly doubles to 25 percent for smokers with particular BRCA2 mutation.

Mutations in other genes can increase someone’s risk of developing cancer. Mutations in the EGFR, KRAS, and ALK genes can increase the risk for lung cancer. Changes in the MSH2, MLH1, MSH6, PMS2 or EPCAM genes increases the risk of cancers included in Lynch syndrome, such as colorectal cancer and cancer of the endometrium, ovaries, pancreas, small intestine, liver, stomach, brain and breast. Mutations in the TP53 gene can increase the risk of cancers in Li-Fraumeni syndrome, such as bone cancer, leukemia, brain tumors, cancer of the adrenal glands, breast cancer, and other cancers.

For many people, cancer develops as the result of inherited genetic mutations coupled with the effects of lifestyle choices. This means someone with a mutation of the EGFR, KRAS or ALK gene who smokes has a higher risk of developing lung cancer than does someone with the gene mutations that does not smoke.  

Benefits of Genetic Testing for You and Your Family

Genetic testing provides several advantages, to both you and your family. Finding out the results of your genetic testing brings a sense of relief from uncertainty, for example. Genetic screening can also provide in-depth knowledge about your personal risk of cancer and provide the information you need to make informed lifestyle and medical decisions.

Perhaps the best benefit of all is genetic testing gives you an opportunity to help educate other family members about their risk for cancer so that they can make positive lifestyle and medical choices too.  

If you have mutations of BRCA 1 and BRCA 2 genes, there is a probability that your family members could also have the genetic mutation. Knowing that you have the gene gives you an opportunity to be proactive and to take preventive action, which can change the trajectory of the outcome. For greatest ease of mind, every member of the family tree should undergo CGX testing.

Sources:

Mr. Frank Magliochetti MBA
Managing Partner
Parcae Capital

www.parcaecapitalcorp.com
www.frankmagliochetti.com