Would You Undergo Genetic Testing for Personalized Meds? New Survey Highlights Public Perception

Genetics is key to understanding what makes you unique — not just in appearance but also in personality and health. 

A study of how genes are passed down from one generation to the next, genetics helps explain what makes you unique. Genes, after all, carry instructions inside each cell, telling these building blocks of your body how to work and grow. 

We inherit these genes from our parents: one set from the mother and one set from the father, which can match up in different ways to make different combinations. This is exactly why many family members look so much alike while others don’t at all. 

Besides sharing appearance, we also share what can make us sick with our families. So, genes can increase the risk of getting certain health conditions. 

Also, some diseases are caused by changes in the instructions in a gene, which is called a mutation, and every person has them. However, not all changes have an effect. In fact, some are even helpful, while others may lead to disease.

Your genetic structure determines not just your risk of diseases but sometimes even how you respond to medication. This means that some medications may not work for people with certain genetic variations and might even cause serious side effects in others.

As such, these very same genetics can be used to provide medications and treatments designed just for you. This is exactly what scientists, researchers, and companies are trying to do with pharmacogenomics.

Pharmacogenomics is the study of how a person’s genetics respond to medications. It is a field of precision medicine that aims to tailor medical treatment to each person.

“Pharmacogenomics holds enormous promise for improving health and helping to shift healthcare from reaction to prevention.”

– Dr. Rich Scott, CEO at Genomics England

By analyzing an individual’s genetic profile, pharmacogenomics helps predict whether a drug will be effective or cause adverse reactions and find the best medicine for the patient. Instead of “one size fits all,” this enables healthcare professionals to take an individualized approach, enabling personalized medicine.

For this, one has to undergo genetic testing, which involves examining a person’s blood, hair, skin, or other tissues to look for any mutations or variations in their genetic material. 

The most widespread use of genetic testing is newborn screening, in which a baby is screened for genetic diseases. 

Personalized genetic testing is also gaining a lot of traction as the foundation of personalized medicine. However, there’s still a lack of standardized testing methods and a clear understanding by the public and healthcare professionals.

A recent nationwide study in Saudi Arabia, in which researchers from different institutions collaborated, made an attempt to assess¹ the understanding and practices of healthcare professionals toward personalized genetic testing.

The study of 247 participants revealed that two-fifths (39%) ordered genetic tests directly. Additionally, 52.3% of participants reported that the genetic tests helped them understand the risks of their patients’ disorders, while 50% said they influenced the patients’ treatment plans.

The main concerns of the participants were the lack of clinical practice guidelines for personalized genetic tests (50%) and the cost of these tests (50.9%).

The study also noted insufficient knowledge, lack of guidelines, and practical application barriers as challenges and suggested enhancing medical education, developing clinical guidelines, and improving the awareness of patients to effectively integrate genetic testing into clinical practice.

As for what people think about genetic testing, there is even less knowledge about that, which is crucial to ensure the uptake of this technology. But that is now finally changing, according to the latest survey. 

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Vast Majority of Public Support Genetic Testing

New research has revealed that the majority of people are in support of genetic testing to get tailored medication and want the public healthcare system to offer this capability to people, especially those with multiple health conditions. 

“These results show it’s vital that the public are partners, not passengers, on this journey.”

– Scott from Genomics England

For this information, researchers at Queen Mary University of London worked with key partners to carry out a first-of-its-kind public consultation to collect the public perception of pharmacogenetics. 

Queen Mary is known for the application of genomics to personalized healthcare through the Barts Life Science Precision Medicine Programme and the 100,000 Genomes Project.

The project, which was launched in 2013, sequences 100,000 genomes from about 85,000 patients with rare disorders and cancers. Over the past decade, it has enabled more than 36,000 NHS patients with rare diseases and unmet diagnostic needs to have access to genome sequencing and helped them get personalized treatment.

This way, the project has helped bring genomic medicine to health services, with over a hundred hospitals coming together to standardize and coordinate sequencing. It also made the NHS the first national healthcare system in the world to offer whole genome sequencing in routine care.

By assembling over 100,000 genome sequences in its Data Centre together with linked clinical data, it has amounted to over 2 billion data items, which are accessible to institutions around the world to enable researchers to find the causes, diagnosis, and treatment of disease.

Now, a research team guided by Dr. Emma Magavern, an NIHR Clinical Academic Lecturer at Queen Mary’s Centre for Clinical Pharmacology and Precision Medicine, surveyed a representative sample of UK adults. 

The survey results show that “there is widespread public support for personalizing prescribing with genetic information and including this within NHS clinical care nationally, in partnership with patients and highlighting the key role of patient agency,” said  Dr. Magavern.

The survey got 2,719 responses, which revealed the following key findings:

• Just half of the respondents were aware that mutations in DNA can forecast the medication’s effectiveness or side effects.
• Those who were prescribed medication were about twice as likely to want a Pharmacogenetic (PGx) test.
• 59% of people shared experiencing having either no benefit from medication or a side effect. 
• Almost 90% of people showed interest in genetic testing for tailored medication use.
• 85% want the NHS to offer pharmacogenomic testing to people with multiple health conditions.
• 58% of respondents believe that the NHS should offer this testing to everyone. 
• A massive 91% of respondents reported interest in accessing their pharmacogenomic data, that too through the NHS app.

The survey, Dr. Magavern said, “shows that many people in the UK feel that they have taken medication which has not been good for them, and most understand that people can respond differently to the same medication.”

Prescription medicines are a critical part of healthcare. In the UK alone, nearly half of the adult population takes them on a daily basis, and over 1.1 billion items are prescribed annually. Side effects from medication actually account for one in 16 hospital admissions and cost the NHS an estimated £2.2 billion per year, showcasing the importance of pharmacogenetic testing.

The annual budget of the NHS for medicines is about £17.4 billion. Meanwhile, the US spent $722.5 billion on pharmaceuticals in 2023, which includes spending on prescription drugs, nonfederal hospitals, and clinics. 

With so much capital spent on medication, it makes sense that both clinicians and patients want personalized medication. Results also show that the public wants genetic testing to be used to make drug prescriptions more effective and safer, along with access to their own data. 

“This is all vital information as we develop the digital infrastructure and evidence on how routine use of pharmacogenomics could become a routine part of healthcare in the coming years and have a real impact on patient care.”

– Dr. Scott

Breakthroughs in Genetic Testing and Personalized Medicine

Genetic testing has advanced significantly over the last many years, including whole-genome sequencing, single-cell sequencing, and gene editing. These advances have led to more accurate diagnoses, personalized treatments, and improved disease management. 

Continued research has further helped take this field forward by enhancing treatment personalization and improving overall patient outcomes.

Genetic testing is actually being used a lot for cancer treatment. A recent study made advances in this field by providing information on almost 7,000 BRCA2 gene variants², including thousands of variants of uncertain significance (VUS).

BRCA2 genetic testing is routine for hereditary breast, ovarian, prostate, and pancreatic cancers due to certain BRCA2 gene variants being associated with cancer predisposition. However, scientists struggle to predict the functional effects of many BRCA2 variants, which results in thousands of VUS that, without proper classification, simply can’t help guide clinical cancer management, a problem the study solves. 

Meanwhile, NYU Langone Health researchers developed Ultra-Rapid droplet digital PCR to identify the genetic “fingerprints” of cancer cells so that surgeons can remove brain tumors more accurately in the future during surgery itself.

The tool measures the level of tumor cells in a tissue sample in a mere 15 minutes. It can even detect small numbers of cancer cells.

Mutations help identify cancer types, and this tool has been tested to detect cancer cells in real-time and directly by using mutations. The study focused on two particular genetic mutations that are common in brain cancers, i.e., BRAF V600E and IDH1 R132H.

Another interesting study found that variations in the NFKB1 gene, which is present in 90% of Aymarans, about 30% of Europeans, Hispanics, and Asians, and less than 1% of Africans, are tied to hemoglobin levels. This genetic trait also suppresses inflammatory gene expression.

It is because of this variation that the Aymara people are able to adjust to altitudes as high as 2.75 miles (14,400 feet) above sea level. Their high levels of hemoglobin mean that their bodies are particularly good at delivering sparse oxygen to the cells that need it.

With these findings, hematology researchers hope to gain new insights into myeloproliferative neoplasms — conditions that cause the bone marrow to produce too many blood cells, leading to increased risks of bleeding, blood clots, and acute myeloid leukemia.

So, this study genotyped thirty patients with polycythemia vera (PV) and fifteen with ET (essential thrombocythemia) and discovered that those who possess the genetic trait had a lower magnitude of inflammatory as well as prothrombotic and hypoxia-inducible factor activity.

The study findings suggest that genetic testing can reveal which patients with PV and ET have the Aymaran genetic trait, helping predict who may have a better response to medications. The team is also exploring the potential impact of the genetic trait on other blood disorders.

While researchers are studying genetics to treat both rare and common diseases, companies are working on making it available to the general public. 

For instance, last year, genetic testing and analysis company Nucleus Genomic launched its DNA analysis product to offer everyone the benefits of personalized medicine.

The company, which has raised funding from venture capital firms like Peter Thiel’s Founders Fund and Alexis Ohanian’s Seven Seven Six, sequences all US customer samples on Illumina’s NovaSeq X Plus.

It aims to use the power of genomics to help people live longer and healthier, for which it will provide premium clinical-grade whole-genome sequencing (WGS) service and polygenic risk scores (PRS). 

All these efforts in genetic testing and analysis promise advancement in personalized medicine by identifying a person’s risk of disease and how they respond to medications. 

In the case of disease risk, genetic testing allows for early intervention, reducing the risk through lifestyle changes and enabling preventive treatments. As for medication, genetic testing helps predict the efficacy of the drug, guide the dosage, and ensure safety from adverse reactions.

Investable Opportunities 

Now, several companies are working in the field of genetic testing that are publicly listed, offering investable opportunities. 

This includes the $15.16 bln market cap Illumina (ILMN -5.4%), which is engaged in DNA sequencing and array-based technologies and whose shares are down 28.34% YTD as it trades at $95.76.

Then there’s cancer diagnostics company Exact Sciences (EXAS -1.4%), whose shares are down 10.7% YTD to trade at $50.18 while having a market cap of $9.32 bln.

But let’s take a deeper look into some prominent names:

1. Natera Inc (NTRA -2.46%)

A prominent player in cell-free DNA and genetic testing, the $20.95 billion market cap Natera’s shares are currently trading at $157.11, down 1.45% YTD. It has a P/E ratio of -87.95.

For Q4 2024, the company reported revenue of $472 million, an increase of 52% from 4Q23, while for the full year, it came in at $1.7 billion. During this quarter, Natera processed 792,800 tests and achieved positive cash inflows of $45.8 million. The positive cash inflows for the full year 2024 were $86.3 million compared to cash outflows of $267.1 million in 2023.

Recently, Natera secured expanded Medicare coverage for its Signatera test, which is for patients with non-small cell lung cancer (NSCLC). Signatera, a personalized test that uses circulating tumor DNA to detect and quantify residual cancer, has demonstrated its efficacy in the surveillance setting for stage I-III NSCLC. 

The company also appeared at the 43rd Annual J.P. Morgan Healthcare Conference, where it announced updates to its oncology innovation roadmap. Natera introduced three key developments: a new version of Signatera leveraging WGS, a new tissue-free MRD capability, and its Early Cancer Detection (ECD) assay showing an overall detection as high as 95%.

2. Fulgent Genetics (FLGT -3.39%)

The technology-based genetic company has a market cap of $498.25 million, with its shares currently trading at $16.10, down 11.8% YTD. It has a P/E ratio of -5.53. 

For Q3 2024, the company reported a total revenue of $71.7 million, which grew 9% year-over-year. Its GAAP loss was $14.6 million or ($0.48) per share, and non-GAAP income was $9.4 million, or $0.31 per share. Cash, cash equivalents, restricted cash, and investments in marketable securities at the end of the quarter were $815.4 million.

Last year, Fulgent Genetics secured a $99 million five-year contract with the US Department of Veterans Affairs (VA) to provide pharmacogenetic, hereditary cancer, and other genetic testing to veterans.

“Our comprehensive suite of germline tests enables us to build custom solutions tailored to the VA’s needs. PGx testing, in particular, has become increasingly important for patient care. Our PGx test utilizes next-generation sequencing, offering higher resolution and greater coverage to ensure the delivery of accurate and actionable data.”

– Fulgent’s chief scientific officer, Dr. Harry Gao

The company recently expanded its market reach in cancer diagnostics through a strategic partnership with Foundation Medicine, which has announced the launch of two new genetic testing products in the US. The tests are FoundationOne®Germline, which analyzes 50 genes related to hereditary cancers, and FoundationOne®Germline More, which analyses 154 genes.

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Conclusion 

Genetic testing is a rapidly growing field that can help people make informed decisions about their health. This growth is driven by advancements in technology such as CRISPR-Cas9 and Next-Generation Sequencing (NGS), increasing awareness of genetic conditions, and wider applications in healthcare, including prenatal screening, rare diseases, and guiding treatment decisions. 

As the latest survey shows, genetic testing is also making a shift from being a niche medical tool to a mainstream necessity, with the public showing great awareness and support. This emphasizes the potential of genetic testing to enhance treatment efficacy and safety.

Against this backdrop, advances in genetic research, from pharmacogenomics to cancer diagnostics, are shaping the future of healthcare. However, integrating these technologies into routine clinical care still requires overcoming barriers such as cost, awareness, and regulatory frameworks. But with continued innovation and funding support, genetic testing can revolutionize medicine, offering more precise, effective, and individualized healthcare solutions.

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Study Reference:

1. Uddin, M., Deeb, A., Ardah, H., et al. (2024). A nationwide cross-sectional study in Saudi Arabia for the assessment of understanding and practices of clinicians towards personalized genetic testing. Scientific Reports, 14, 31748. https://doi.org/10.1038/s41598-024-82453-0

2. Huang, H., Hu, C., Na, J., et al. (2025). Functional evaluation and clinical classification of BRCA2 variants. Nature, 638, 528–537. https://doi.org/10.1038/s41586-024-08388-8