A Significant Milestone in Improving the Access of Malaysians to Comprehensive Genomic Profiling

Recently, Roche Pharmaceuticals and Roche Diagnostics cemented a partnership with Premier Integrated Labs with the signing of a memorandum of understanding (MOU). This MOU is effective from November 2023.

The objectives of this partnership include improving patient access to comprehensive genomic profiling or CGP as well as promoting greater awareness and understanding of CGP among Malaysians.

MS HENG CHAI YIN
General Manager
Roche Diagnostics (M) Sdn Bhd

“While awareness and understanding are crucial, our ultimate goal is to ensure that CGP is accessible to all patients in Malaysia. It is about providing every patient with the best possible chance for an accurate diagnosis and tailored treatment plan,” says Ms Heng Chai Yin, the General Manager of Roche Diagnostics Sdn Bhd.

WHAT IS COMPREHENSIVE GENOMIC PROFILING (CGP)?

With a single test, comprehensive genomic profiling (CGP) can analyse a broad panel of genes that is known to drive cancer growth. This type of testing produces comprehensive patient reports with broad and deep assessments of the possible underlying cancer drivers.1

HOW CGP PLAYS A KEY ROLE IN PRECISION MEDICINE

Precision medicine involves the use of personalized treatments for an individual with regards to a disease.2

Different people can respond differently to the same medication for the same disease, and there are many possible factors that are responsible for these differences.

Hence, a big part of precision medicine involves the identification of these differences through investigative methods such as in the image below.

Click on the image for a larger, clearer version. CGP falls under omics. Hence, it is one of the important procedures that provide healthcare professionals with the necessary data to design the best personalized treatments for their patients.
HOW CGP CAN IMPROVE THE PRECISION OF CANCER TREATMENT IN MALAYSIA
MS DEEPTI SARAF
General Manager
Roche (Malaysia) Sdn Bhd

According to Ms Deepti Saraf, CGP holds the key to unlocking the full potential of personalized medicine. It allows us to explore the genetic makeup of individuals, thereby enabling more precise and tailored treatment approaches.

Let’s look at lung cancer as an example.

How CGP could improve treatment for lung cancer and benefit both the patient and the oncologist. Click the image for a larger, clearer version.
CGP IS DIFFERENT FROM CONVENTIONAL GENOMIC TESTS

Ms Deepti Saraf points out that, unlike those genomic tests in the market that let you know about your genes and ancestry, CGP is more of a diagnostic tool that empowers doctors, especially oncologists, to create the most optimal personalized treatments for their patients based on available data.

EN HAREEFF MUHAMMED
Chief Executive Officer
Premier Integrated Labs

En Hareeff Muhammed brings up that, with the wealth of genomic data obtained through the use of CGP, databases can be created to analyse which treatments would work best for different groups of patients.

This goes back to Ms Deepti Saraf’s statement that CGP allows healthcare professionals to design the best personalized treatments for their patients. They can do this by using the information found in the database to help shape their decisions.

“It’s not just useful for the patients and saves time,” En Hareeff elaborates. “It also supports doctors in making better decisions.”

This is an educational article brought to you by

References:

  1. Foundation Medicine. (n.d.). Why comprehensive genomic profiling? https://www.foundationmedicine.com/resource/why-comprehensive-genomic-profiling
  2. König, I. R., Fuchs, O., Hansen, G., von Mutius, E., & Kopp, M. V. (2017). What is precision
    medicine?. The European respiratory journal, 50(4), 1700391. https://doi.org/10.1183/13993003.00391-2017
  3. Omics-based clinical discovery: Science, technology, and applications. (2012, March 23). In C.M. Micheel, S.J. Nass, & G.S. Omenn (Eds), Evolution of translational omics: lessons learned and the path forward (p. 33). National Academies Press (US). https://www.ncbi.nlm.nih.gov/books/NBK202165/
  4. Tan, J., Hu, C., Deng, P., Wan, R., Cao, L., Li, M., Yang, H., Gu, Q., An, J., & Jiang, J. (2021). The predictive values of advanced non-small cell lung cancer patients harboring uncommon EGFR mutations-the mutation patterns, use of different generations of EGFR-TKIs, and concurrent genetic alterations. Frontiers in oncology, 11, 646577. https://doi.org/10.3389/fonc.2021.646577
  5. American Lung Association. (2022, November 17). EGFR and lung cancer. https://www.lung.org/lung-health-diseases/lung-disease-lookup/lungcancer/symptoms-diagnosis/biomarker-testing/egfr

Pancreatic Cancer 101: How Early Detection Can Make a Crucial Difference

WORDS LIM TECK CHOON

FEATURED EXPERT
DR TAN CHIH KIANG
Consultant Clinical Oncologist
Thomson Hospital Kota Damansara
PANCREATIC CANCER AT A GLANCE
An overview of pancreatic cancer. Click for a clearer, larger image.
  • “Pancreatic cancer is a type of cancer that originates from the pancreas, a vital organ located between the stomach and liver,” Dr Tan Chih Kiang tells us. “It occurs when abnormal cells in the pancreas multiply uncontrollably, forming a tumour.”
  • It’s the 12th most common cancers diagnosed worldwide.
  • It’s one of the deadliest cancers, with a 5-year survival rate of just 5–10%.
  • According to Dr Tan, this low survival rate is mainly the result of many pancreatic cancer cases being detected and diagnosed only when the cancer has reached an advanced stage. “At this stage, treatment options are limited, and surgery is no longer an option,” he says.
YOU ARE MORE LIKELY AT RISK OF PANCREATIC CANCER IF YOU…
  • Are obese. People with body mass index or BMI of 30 and higher face up to 20% increased risk.
  • Smoke. 25% of pancreatic cancer cases involve tobacco smokers.
  • Have diabetes. The link between diabetes and pancreatic cancer is still unclear, however.
  • Have chronic pancreatitis or long-term inflammation of the pancreas. Heavy smoking and drinking of alcohol can lead to chronic pancreatitis.
  • Have a genetic mutation that leaves you more likely to develop this cancer.
  • Are older. Dr Tan shares that the average age of the people diagnosed with this cancer is 70.

Aside for the last 2 risk factors, the other risk factors can be managed through lifestyle modifications—losing weight through healthy, balanced diet and regular physical activity, for example—and good control of existing health conditions. You can consult your doctor for more information.

HOW TO TELL THAT YOU MAY HAVE PANCREATIC CANCER
  • Upper abdominal pain and discomfort. The pain may radiate to the back.
  • Jaundice, which is the yellowing of the skin and the white of the eyes, and/or very itchy skin.
  • Indigestion that does not respond to conventional medications.
  • Fatigue—feeling exhausted all the time.
  • Unexplained weight loss.

Most of these symptoms often go undetected, or are assumed to be trivial, hence the cancer is allowed to progress to an advanced stage unchecked.

Dr Tan advises us to see a doctor should we experience these symptoms. Better safe than sorry, as early detection allows for a higher chance of better treatment outcome!

A Cancer Expert Explains What You Should Know About Wilms Tumour

WORDS LIM TECK CHOON

FEATURED EXPERT
DR ENI JURAIDA ABDUL RAHMAN
Consultant Paediatrician, Paediatric Haematologist, and Paediatric Oncologist
Sunway Medical Centre

“Wilms tumour is the most common type of kidney cancer affecting children, usually those that are under 5 years old,” says Dr Eni Juraida Abdul Rahman.

FACTS ABOUT WILMS TUMOUR
  • It is also called Wilms’ tumor or nephroblastoma. The name Wilms came from Max Wilms, a German surgeon that first described this cancer.
  • The tumour is the result of mutations of genetic materials in kidney cells, which typically occur after birth.
  • Usually only one kidney is affected, but in 5% to 7% of cases, it can be found in both kidneys.
WHAT CAUSES WILM TUMOUR?

Just like with most cancers, we still haven’t found the exact causes for this cancer.

However, Dr Eni Juraida points out that there are certain genetic disorders that can increase a child’s risk of developing Wilms tumour, such as:

  • Aniridia, or the abnormal development of the iris of the eye due to genetic mutation, usually along chromosome 11 that led to deleted genes and hence missing genetic information.
  • Hemihypertrophy or hemihyperplasia, a condition in which one side of the body or a part of one side of the body is larger than the other in an extent that is greater than what is considered normal.

“Patients with WAGR syndrome have a 45% to 60% chance of developing Wilms tumour,” says Dr Eni Juraida.  WAGR stands for: Wilms tumour, aniridia, genitourinary malformation, and range of developmental delays.

SYMPTOMS TO WATCH OUT FOR IN A CHILD
  • Painless swelling in the abdomen, occasionally noted by parents while bathing the child; the tumour may cause discomfort
  • Haematuria, or blood in urine
  • Hypertension or high blood pressure
  • Fever
  • Unusual loss of appetite, resulting in weight loss
  • Pain in the abdomen
  • Generally feeling unwell
  • Cough and shortness of breath
HOW IS WILMS TUMOUR TREATED?

Treatment options will depend on the stage of the tumour.

Surgery

The mainstay treatment, usually done upfront for stage I and II tumours and sometimes delayed for stage III, is a surgical procedure called nephrectomy. This surgery removes the affected kidney and hence the tumour from the child’s body.

In the rare cases when tumours are present in both kidneys, partial nephrectomy removing only the parts affected by the tumour will be performed to preserve as much of the kidneys as possible.

Chemotherapy

“Chemotherapy are medications that are given to kill cancer cells,” Dr Eni Juraida explains.

For stage I and II tumours, these medications can be given after a nephrectomy, to kill off any remaining cancer cells.

However, stage III tumours are much larger in size compared to stage I and II ones, and chemotherapy will be prescribed before a surgery to first shrink the tumour. This will allow the surgery to be carried out more safely.

Radiotherapy

This may be prescribed in some cases, usually for tumours that has spread to other organs such as the lungs or are not completely resolved via chemotherapy.

CAN WE HELP PREVENT THE DEVELOPMENT OF WILMS TUMOUR IN OUR CHILD?

“Since we don’t know the cause, it is difficult to have any preventive measure,” Dr Eni Juraida points out.

However, for children with WAGR syndrome, having them undergo a surveillance ultrasound of the abdomen on a periodic basis—such as every 6 months—can help detect Wilms tumour.

Not Sure What Immunotherapy Is? Get Your Answers From an Oncologist!

WORDS LIM TECK CHOON

FEATURED EXPERT
DR HAFIZAH ZAHARAH AHMAD
Consultant Clinical Oncologist
Sunway Medical Centre Velocity
IMMUNOTHERAPY IS A NEWER APPROACH TO TREAT CANCER, BUT WHAT EXACTLY IS IT?

According to Dr Hafizah Zaharah, immunotherapy is a pretty unique way to treat cancer, in that it uses the body’s own immune system to attack cancer cells.

“The immune system is like the police force of our bodies,” she says. “It is designed to protect the body against infections, illnesses, and diseases.”

The cells that make up our immune system. Click on the image for a larger, clearer version.

When it comes to faulty or mutated cells in our body, the immune system identifies and eliminates these cells before these cells become a significant threat to our healty.

However, the cells of our immune system may not be strong enough to kill cancer cells, according to Dr Hafizah. Sometimes, the cancer cells are able to fool our immune system by resembling normal cells or hiding themselves.

THIS IS WHERE IMMUNOTHERAPY COMES INTO THE PICTURE

“Immunotherapy can boost or change how the immune system works, so it can recognize and kill cancer cells,” explains Dr Hafizah.

For example, cancer cells originate from normal cells, so the immune system may still mistake them for normal cells.

“These cancer cells can push a ‘brake’ button on the immune cells, so the immune system would not attack them,” Dr Hafizah adds.

Now, a type of immunotherapy called checkpoint inhibitors can take the ‘brakes’ off the immune system, allowing it to now recognize and attack the cancer cells!

There are other types of immunotherapy, of course, and these treatments can be used for various cancers.

CANCERS THAT CAN RESPOND TO IMMUNOTHERAPY
  • Non-small cell lung cancer
  • Triple negative breast cancer
  • Head and neck cancer
  • Cervical cancer
  • Gastric cancer
  • Oesophageal cancer
  • Bladder cancer
  • Melanoma
  • Liver cancer
  • Renal cell carcinoma
  • Endometrial cancer
  • Colon cancer
WHAT IS IMMUNOTHERAPY LIKE?

According to Dr Hafizah, various immunotherapy agents are given as an infusion into a vein (a drip) typically once every few weeks.

These immunotherapy agents can be given to the patient all by itself, or in combination with targeted therapy or chemotherapy.

“For advanced stage cancer, immunotherapy treatment generally is given for 2 years, alongside close monitoring,” Dr Hafizah further says.

IS IT EFFECTIVE, THOUGH?

Although immunotherapy seems like the answer every person with cancer is looking for, Dr Hafizah warns that not all types of cancers will respond well to the treatment.

This is why, before embarking on immunotherapy, one will first undergo a specific biomarker test, such as the PD-L1 test, which will be carried out on a cancer specimen to ensure that the person will respond to the treatment.

ARE THERE ANY SIDE EFFECTS TO BE CONCERNED ABOUT?

“Generally, the treatment is well tolerated,” Dr Hafizah assures us.

However, just like with most types of treatments, side effects are possible. These include:

  • Feeling tired, skin rash, or muscle or joint pain
  • Rare side effects include allergic reactions such as dizziness, fast heart rate, face swelling, or breathing problems
  • Autoimmune reactions, which can lead to serious problems in the lungs, intestines, liver, hormone-making glands, kidneys, skin, etc

How Much Do You Know about Male Breast Cancer? Let’s Find Out!

WORDS LIM TECK CHOON

FEATURED EXPERT
DR NIK MUHD ASLAN ABDULLAH
Clinical Oncologist
Sunway Medical Centre
BREAST CANCER AFFECTS MEN AS WELL AS WOMEN

Breast cancer in both men and women share many similar attributes.

The most common kinds of breast cancer in men are the same kinds that are present in women, namely:

  • Invasive ductal carcinoma
  • Invasive lobular carcinoma
  • Ductal carcinoma in situ (or DCIS)

Dr Nik Muhd Aslan Abdullah says that breast cancer is, however, rare among men.

WARNING SIGNS

According to Dr Nik, many of the most pressing early warning signs of breast cancer in men are also similar to those found in women, such as:

  • Lumps in the breast tissue
  • Skin dimpling or puckering
  • Nipple retraction
  • Unusual discharge from the nipple
HORMONAL CHANGES CAN GIVE RISE TO BREAST CANCER

One reason why breast cancer is rare among men is that the hormone testosterone inhibit the growth of breast tissue, while oestrogen stimulates breast tissue growth.

While men and women have both hormones in their bodies, men have higher levels of testosterone compared to women. On the other hand, women have higher levels of oestrogen.

Some breast cancer cells have special structures at the surface, called hormone receptors. These cells are called hormone-receptor positive (HR positive for short). Oestrogen can bind to these receptors to cause the growth of these cells. Dr Nik explains that men have a higher possibility of developing breast cancer cells that are HR-positive, when compared to their female counterparts.

“Breast cancer cells in men are sensitive to hormonal imbalances,” Dr Nik explains, “so any factors or conditions that can lead to an excess of oestrogen and a lack of testosterone will increase their risk of developing breast cancer.”

What can cause the raise in oestrogen levels in men?
  • Klinefelter syndrome, a rare genetic condition in which a male has an extra X chromosome and produces lower levels of androgens
  • Injury to the testicles
  • Use of androgen inhibitors
  • Liver cirrhosis (scarring of the liver)
  • Obesity 
Family history also plays a factor

About 1 out of 5 men with breast cancer is found to have had a family history of the disease.

This is because men can also inherit a mutation in the BRCA1 or BRCA2 genes or in other genes, such as CHEK2 and PALB2. These mutations will highly increase their risk for breast cancer.

“Unfortunately, we do not have a say in the types of genes we inherit,” Dr Nik says.

He recommends that men with a family history of cancer should consider seeking counsel from their doctors about going for genetic screening tests as soon as they can, especially those over the age of 50.

Genetic screening tests involves taking a blood sample for analysis. A genetic counsellor will then advise the person, based on the results given, on what the next best steps would be for him.

How to conduct self-breast examination for men. Click the image for a larger version.
MEN WITH HR-POSITIVE BREAST CANCER ARE MORE LIKELY TO RESPOND TO HORMONE TREATMENTS

Dr Nik explains that hormone therapy can be used to help lower the risk of the cancer cells spreading or treat cancer that has come back after treatment.

Why then do men with breast cancer have lower survival rate compared to their female counterpart?

“Through many of the studies that I’ve seen, men who are diagnosed with breast cancer have a 8-9% lower survival rate than women,” Dr Nik says.

He attributes this to the fact that men with breast cancer are often diagnosed late.

“Men will sometimes wait too long to seek out a diagnosis for the symptoms they may be experiencing,” he explains, “or not recognize the warning signs of breast cancer in their bodies.”

As a result, they delay seeking help, and tend to do so only when the cancer has become advanced and spread to other parts of the body.

Dr Nik encourages men to seek a doctor’s opinion if they find themselves experiencing any of the mentioned symptoms related to breast cancer. “Breast cancer can be cured, and it is very treatable if detected early on,” he says.

How Breast Ultrasound & Mammogram May Save Your Life

WORDS LIM TECK CHOON

FEATURED EXPERT
DR WINNIE NG NYEK PING
Consultant Clinical Oncologist
Subang Jaya Medical Centre
NO FAMILY HISTORY OF BREAST CANCER = NO PROBLEM? WELL, THINK AGAIN!

“Even if one has no known family history of cancer, external factors such as environmental exposures, prolonged exposure to female hormones and lifestyle features may contribute to an increased relative risk of breast cancer,” says Dr Winnie Ng, a consultant clinical oncologist.

“Aside from genetics, there are numerous underlying possible causes of breast cancer,” says Dr Ng
  • Alcohol intake
  • Smoking
  • Prolonged exposure to female reproductive hormones such as oestrogen, such as in women that reach menstruation at early age, women that have never been pregnant, women on oral contraceptive pills, women that experience menopause late, and woman that have their first full-term pregnancy at a later age
  • Postmenopausal women on hormone replacement therapy
  • Obesity

Therefore, even if you have no family history of breast cancer, Dr Ng recommends that still going for breast cancer screening.

“The easiest method of screening is by self-examination of the breast,” she adds.

How to perform a breast self-examination. Click on this image to view a larger version.
AS WE STILL DON’T HAVE A CURE FOR BREAST CANCER, SCREENING REMAINS THE MOST PRACTICAL SOLUTION TO DETECT BREAST CANCER EARLY

Dr Ng recommends that:

  • Women below 40 should undergo a breast ultrasound.
  • Women above 40 are advised to go for a mammogram.

You should consult your doctor about your risk factors and how often you should go for breast cancer screening.

“A breast cancer diagnosis is not a death sentence. Self-tests and regular screenings can save lives,” says Dr Winnie Ng.

Will Consuming Bak Kut Teh Soup Damage Your Liver?

WORDS DR CHIENG JIN YU

FEATURED EXPERT
DR CHIENG JIN YU
Consultant Physician, Gastroenterologist & Hepatologist
Pantai Hospital Ampang

Back in June, the journal Forensic Science, Medicine and Pathology published a paper titled ‘Could herbal soup be a potentially unrecognized cause of hepatotoxicity at autopsy?’.

WHAT DOES THE PAPER SAY?

You can read the paper here (link opens in a new tab), but here are the key points:

  1. One of the investigators had a patient that suffered liver damage after eating bak kut teh soup.
  2. These researchers added 4 different formulations of bak kut teh soup to cultures of liver cancer cells.
  3. All 4 formulations were seen to cause ‘significant’ toxicity to these cells.
THAT SOUNDS ALARMING!

Indeed, this paper generated some discussion in the media recently. After all, bak kut teh is a popular delicacy especially among the Chinese population in Malaysia and Singapore!

Let me point to the statement made by Professor Roger Byard, the lead author of the study, in an interview with ABC Radio Adelaide: he said that he didn’t feel that people should panic over the results of the study.

“Obviously, a lot of people have this soup and don’t have a problem,” Prof Bayard told the interviewer, adding that he personally loves bak kut teh and has enjoyed the dish for years.

WHY PANIC MAY BE PREMATURE

We still don’t know the direct cause the patient’s liver damage. Perhaps she had a previous liver disease that led to the observed liver damage, or perhaps her liver was damage after she took her lipid-lowering medication.

We haven’t identified the exact component(s) in bak kut teh soup that may lead to liver damage. Furthermore, to date, we are not informed of the concentrations of various ingredients in these soup bases, so we can’t make a definite conclusion about the toxicity of these ingredients to our liver cells.

The investigators conducted an in-vitro laboratory study. What this means is that it was done in a controlled environment such as a test tube or petri dish.

Hence, we don’t know yet whether a similar result will be seen if the test were performed on actual people. Our digestive system is far more complex than what is in a test tube or petri dish, so this study does not accurately replicate what will happen to our body after we’ve consumed bak kut teh.

They did not study drug-food interactions. Everything we ingest, whether it’s medicine, foods, and drinks, may have a favourable response or therapeutic effect. It may also have therapeutic side effects.

THE TAKE HOME MESSAGE FROM ALL OF THIS

This is why the title of the paper is framed as a question: ‘Could herbal soup be a potentially unrecognized cause of hepatotoxicity at autopsy?’

It is meant to be a starting point for more research into the matter.

Until we have more information, there’s no harm in enjoying bak kut teh so long as it’s in moderation and in line with our healthy eating principles!

Reference: Britza, S. M., Farrington, R., Musgrave, I. F., Aboltins, C., & Byard, R. W. (2022). Could herbal soup be a potentially unrecognized cause of hepatotoxicity at autopsy?. Forensic science, medicine, and pathology, 1–4. Advance online publication. https://doi.org/10.1007/s12024-022-00490-5